4556 lines
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Entry
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- *614386 - PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2
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- OMIM
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<p>
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<span class="h4">*614386</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614386">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000167371;t=ENST00000358758" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=112476" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=614386" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000167371;t=ENST00000358758" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001256442,NM_001256443,NM_145239,XM_011545715,XM_017022887,XM_017022888,XM_017022889" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_145239" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=614386" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/PRRT2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/15030270,21739682,21750815,22760099,31565578,45502317,74738828,119600396,119600397,119600398,119600399,156523246,158258218,374253783,374253785,767988218,1034593451,1034593453,1034593455,2462547193,2462547195,2462547197,2462547199" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q7Z6L0" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=112476" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000167371;t=ENST00000358758" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRT2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PRRT2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+112476" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/PRRT2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:112476" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/112476" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000609618.2&hgg_start=29812193&hgg_end=29815881&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30500" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:30500" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/prrt2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614386[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614386[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PRRT2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000167371" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PRRT2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PRRT2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PRRT2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PRRT2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA142671132" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:30500" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1916267" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/PRRT2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1916267" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/112476/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=112476" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-121210-3" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=PRRT2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715534008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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614386
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PRRT2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PRRT2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/16/330?start=-3&limit=10&highlight=330">16p11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:29812193-29815881&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">16:29,812,193-29,815,881</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=602066,128200,605751" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
|
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="3">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/330?start=-3&limit=10&highlight=330">
|
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16p11.2
|
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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Convulsions, familial infantile, with paroxysmal choreoathetosis
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602066"> 602066 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
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Episodic kinesigenic dyskinesia 1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/128200"> 128200 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
Seizures, benign familial infantile, 2
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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|
<a href="/entry/605751"> 605751 </a>
|
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
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<p><a href="#1" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. <strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong> Nature Genet. 43: 1252-1255, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>] [<a href="https://doi.org/10.1038/ng.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22101681">Chen et al. (2011)</a> identified PRRT2 within a region of chromosome 16 linked to the paroxysmal kinesigenic dyskinesia locus (EKD1; <a href="/entry/128200">128200</a>). The deduced 340-amino acid protein has a proline-rich domain in its N-terminal half and 2 transmembrane domains in its C-terminal half. RT-PCR of mouse tissues detected high Prrt2 expression in brain and spinal cord, with negligible expression in all other tissues examined. Prrt2 expression in mouse was low prior to embryonic day 16, after which it increased, peaked at postnatal day 14, and declined in adult. RT-PCR and in situ hybridization of postnatal day-14 mouse brain revealed high Prrt2 expression in cerebral cortex, hippocampus, and cerebellum, with enrichment in cortical layers of cerebral cortex, as well as in granule cells and Purkinje cell layers of cerebellum. Fluorescence-tagged PRRT2 was expressed in the membrane of transfected COS-7 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others. <strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong> Am. J. Hum. Genet. 90: 152-160, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243967">Heron et al. (2012)</a> found that Prrt2 was widely expressed in the mouse brain, with high expression in the cerebral cortex and lower expression in the basal ganglia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. <strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong> Nature Genet. 43: 1252-1255, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>] [<a href="https://doi.org/10.1038/ng.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22101681">Chen et al. (2011)</a> determined that the PRRT2 gene contains 4 exons, the first of which is noncoding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. <strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong> Nature Genet. 43: 1252-1255, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>] [<a href="https://doi.org/10.1038/ng.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22101681">Chen et al. (2011)</a> stated that the PRRT2 gene maps to chromosome 16p11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In HEK293T cells and brain extracts from mice, <a href="#4" class="mim-tip-reference" title="Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others. <strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong> Cell Rep. 1: 2-12, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22832103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22832103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22832103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2011.11.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22832103">Lee et al. (2012)</a> demonstrated that the PRRT2 protein interacted with SNAP25 (<a href="/entry/600322">600322</a>), a synaptosomal membrane. After transfection of PRRT2 into rat hippocampal cells, PRRT2 was detected in thin axonal processes exiting from the neuron cell bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22832103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 8 unrelated Han Chinese families with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#1" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. <strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong> Nature Genet. 43: 1252-1255, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>] [<a href="https://doi.org/10.1038/ng.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22101681">Chen et al. (2011)</a> identified 3 different heterozygous truncating mutations in the PRRT2 gene (<a href="#0001">614386.0001</a>-<a href="#0003">614386.0003</a>). The first mutation was found by exome sequencing of a large 4-generation family with 17 affected individuals. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm, suggesting interruption of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a combination of exome sequencing and linkage analysis in 2 large Han Chinese families with EKD1, <a href="#12" class="mim-tip-reference" title="Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others. <strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong> Brain 134: 3493-3501, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awr289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22120146">Wang et al. (2011)</a> independently and simultaneously identified 2 different heterozygous truncating mutations in the PRRT2 gene (649dupC, <a href="#0001">614386.0001</a> and Q163X, <a href="#0009">614386.0009</a>, respectively) that completely segregated with the phenotype in each family. Two patients in each family also had infantile convulsion and choreoathetosis syndrome (ICCA; <a href="/entry/602066">602066</a>). Analysis of 3 additional Han Chinese families with EKD1 revealed that 2 carried the 649dupC mutation and 1 had a different PRRT2 mutation (<a href="#0010">614386.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22120146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others. <strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong> Am. J. Hum. Genet. 90: 152-160, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243967">Heron et al. (2012)</a> identified heterozygous mutations in the PRRT2 gene (see, e.g., <a href="#0001">614386.0001</a> and <a href="#0004">614386.0004</a>-<a href="#0006">614386.0006</a>) in 14 (82%) of 17 families with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>), and in 5 (83%) of 6 families with familial infantile convulsions with paroxysmal choreoathetosis, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (EKD1), cooccur. The 649dupC mutation (<a href="#0001">614386.0001</a>) was the most common mutation, found in affected members of 12 families with BFIS2 and in 3 families with ICCA. Overall, the 649dupC mutation was found in 15 (79%) of the 19 families with ICCA or BFIS2 studied. The families were of different ethnic origin, including Australasian of western European heritage, Swedish, and Israeli Sephardic-Jewish, and there was no evidence of a common haplotype among these families, indicating a mutation hotspot. These findings demonstrated that mutations in PRRT2 cause both epilepsy and a movement disorder, with obvious pleiotropy in age of expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others. <strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong> Cell Rep. 1: 2-12, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22832103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22832103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22832103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2011.11.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22832103">Lee et al. (2012)</a> also identified heterozygous mutations in the PRRT2 gene (see, e.g., <a href="#0007">614386.0007</a> and <a href="#0008">614386.0008</a>) in affected members of families with ICCA. The mutations were identified by whole-genome sequencing of 6 well-characterized families. The findings were confirmed by the identification of PRRT2 mutations in 24 of 25 additional families with the disorder. The 649dupC mutation was the most common mutation. Sanger sequencing of a third cohort of 78 probands with a less clear clinical diagnosis found that 10 patients with familial disease and 17 with sporadic disease had the common 649dupC mutation; 1 additional patient had a different truncating PRRT2 mutation. None of the pathogenic alleles were found in over 2,500 control chromosomes. There was intrafamilial variability of the phenotype. In vitro functional expression assays showed that the mutant truncating proteins were not expressed and did not exert dominant-negative effect on the wildtype protein, suggesting haploinsufficiency as the pathologic mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22832103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. <strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong> Neurology 79: 170-174, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22744660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22744660</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31825f06c3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22744660">Meneret et al. (2012)</a> identified heterozygous mutations in the PRRT2 gene (see, e.g., <a href="#0001">614386.0001</a>; <a href="#0011">614386.0011</a>-<a href="#0012">614386.0012</a>) in 22 (65%) of 34 patients of European descent with EKD1 or ICCA. Mutations were found in 13 (93%) of 14 familial cases and in 9 (45%) of 20 sporadic cases. There was evidence for incomplete penetrance. The most common mutation was 649dupC, which was found in 17 of the 22 patients with PRRT2 mutations, although this was not due to a founder effect. Compared to patients without PRRT2 mutations, those with mutations had a slightly earlier age at onset (median age of 15 years and 9 years, respectively), but otherwise there were no phenotypic differences between the 2 groups. Most of the mutations caused premature termination, leading <a href="#5" class="mim-tip-reference" title="Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. <strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong> Neurology 79: 170-174, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22744660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22744660</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31825f06c3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22744660">Meneret et al. (2012)</a> to suggest that the disorders result from PRRT2 haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22744660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Schubert, J., Paravidino, R., Becker, F., Berger, A., Bebek, N., Bianchi, A., Brockmann, K., Capovilla, G., Dalla Bernardina, B., Fukuyama, Y., Hoffmann, G. F., Jurkat-Rott, K., and 25 others. <strong>PRRT2 mutations are the major cause of benign familial infantile seizures.</strong> Hum. Mutat. 33: 1439-1443, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22623405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22623405</a>] [<a href="https://doi.org/10.1002/humu.22126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22623405">Schubert et al. (2012)</a> identified a heterozygous 649dupC mutation in the PRRT2 gene in 39 of 49 families with BFIS2 and in 1 patient with sporadic occurrence of the disorder (77% of index cases). Three additional heterozygous PRRT2 mutations (see, e.g., <a href="#0013">614386.0013</a>; <a href="#0014">614386.0014</a>) were found in 3 other families with the disorder. The patients were of German, Italian, Japanese, and Turkish origin. Some of the families had previously been reported by <a href="#9" class="mim-tip-reference" title="Striano, P., Lispi, M. L., Gennaro, E., Madia, F., Traverso, M., Bordo, L., Aridon, P., Boneschi, F. M., Barone, B., dalla Bernardina, B., Bianchi, A., and 15 others. <strong>Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.</strong> Epilepsia 47: 1029-1034, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16822249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16822249</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2006.00521.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16822249">Striano et al. (2006)</a> and <a href="#13" class="mim-tip-reference" title="Weber, Y. G., Berger, A., Bebek, N., Maier, S., Karafyllakes, S., Meyer, N., Fukuyama, Y., Halbach, A., Hikel, C., Kurlemann, G., Neubauer, B., Osawa, M., Pust, B., Rating, D., Saito, K., Stephani, U., Tauer, U., Lehmann-Horn, F., Jurkat-Rott, K., Lerche, H. <strong>Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.</strong> Epilepsia 45: 601-609, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15144424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15144424</a>] [<a href="https://doi.org/10.1111/j.0013-9580.2004.48203.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15144424">Weber et al. (2004)</a>. The 649dupC mutation, which occurs in an unstable DNA sequence of 9 cytosines, arose independently in families of different origin. Some unaffected family members also carried the mutation, indicating incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15144424+16822249+22623405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others. <strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong> J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22399141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22399141</a>] [<a href="https://doi.org/10.1038/jhg.2012.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22399141">Ono et al. (2012)</a> identified the 649dupC mutation in 14 of 15 Japanese families with EKD1, some of whom also had ICCA, and in 2 Japanese families with BFIS2. The mutation was shown to occur de novo in at least 1 family, suggesting that it is a mutation hotspot. EKD1, ICCA, and BFIS2 segregated with the mutation even within the same family. The findings indicated that all 3 disorders are allelic and are likely caused by a similar mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22399141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Heron, S. E., Dibbens, L. M. <strong>Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.</strong> J. Med. Genet. 50: 133-139, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23343561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23343561</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23343561">Heron and Dibbens (2013)</a> reviewed the role of PRRT2 in 3 common neurologic disorders, EKD1, ICCA, and BFIS2, noting that there are no clear genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23343561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000055991 OR RCV000153783 OR RCV000188779 OR RCV000193894 OR RCV000585818 OR RCV000768059 OR RCV000791409 OR RCV000991298 OR RCV001264813 OR RCV001563615 OR RCV002273952 OR RCV002280097 OR RCV002313738 OR RCV002470742 OR RCV004584342 OR RCV004798766" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055991, RCV000153783, RCV000188779, RCV000193894, RCV000585818, RCV000768059, RCV000791409, RCV000991298, RCV001264813, RCV001563615, RCV002273952, RCV002280097, RCV002313738, RCV002470742, RCV004584342, RCV004798766" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055991...</a>
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<p>In affected members of 6 unrelated Han Chinese families with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#1" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. <strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong> Nature Genet. 43: 1252-1255, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>] [<a href="https://doi.org/10.1038/ng.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22101681">Chen et al. (2011)</a> identified a heterozygous 1-bp duplication (649dupC) in exon 2 of the PRRT2 gene in the proline-rich domain, resulting in a frameshift and introduction of a stop codon 7 amino acids downstream of the insertion (Arg217ProfsTer8). The mutation was found by exome sequencing of a large 4-generation family with 17 affected individuals. The mutation completely segregated with the phenotype in each family and was not found in unaffected family members. The mutation was not found in 1,000 Han Chinese controls. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm. A 189-kb common haplotype flanking the mutation was found in 3 of the families, a second different haplotype was found in 2 other families, and a third haplotype was found in the third family. Clinical features of the proband of 1 family was described in detail. He had onset at age 6 years of dystonic posturing of the head and arm, usually triggered by standing up quickly. This occurred up to 10 times per day, and lasted about 5 to 10 minutes. Brain MRI and EEG were normal at age 9 years. Treatment with carbamazepine resulted in complete symptom resolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a combination of exome sequencing and linkage analysis in a large Han Chinese family with EKD1, <a href="#12" class="mim-tip-reference" title="Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others. <strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong> Brain 134: 3493-3501, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awr289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22120146">Wang et al. (2011)</a> independently and simultaneously identified a heterozygous 649dupC mutation in the PRRT2 gene that completely segregated with the phenotype. The mutation was predicted to result in a truncated protein containing only 223 amino acids and lacking the transmembrane segment. Two patients in the family also had infantile convulsion and choreoathetosis syndrome (ICCA; <a href="/entry/602066">602066</a>). Analysis of 3 additional Han Chinese families with EKD1 revealed that 2 carried the 649dupC mutation. The mutation was not found in 500 controls. There was some phenotypic variability: the first family had dystonia, choreoathetosis or athetosis, the second family had predominant dystonia of the upper limbs, whereas the third had predominant dystonia of the lower limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22120146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 3 unrelated families with familial infantile convulsions with paroxysmal choreoathetosis, <a href="#3" class="mim-tip-reference" title="Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others. <strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong> Am. J. Hum. Genet. 90: 152-160, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243967">Heron et al. (2012)</a> identified a heterozygous 649dupC mutation. This heterozygous mutation was also found in 12 unrelated families with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>). Overall, the 649dupC mutation was found in 15 (79%) of the 19 families with ICCA or BFIS2 studied. There was no evidence of a common haplotype among these families. The PRRT2 649dupC mutation clearly occurs at a mutation hotspot, and occurs in a homopolymer of 9 C bases adjacent to 4 G bases. This DNA sequence has the potential to form a hairpin-loop structure, possibly leading to DNA-polymerase slippage and the insertion of an extra C base during DNA replication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. <strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong> Neurology 79: 170-174, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22744660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22744660</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31825f06c3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22744660">Meneret et al. (2012)</a> found that the 649dupC mutation was the most common mutation in a cohort of patients of European descent with EKD1/ICCA. The mutation was present in 17 of 22 patients with PRRT2 mutations. Several unaffected family members also carried the mutation, indicating incomplete penetrance. There were at least 5 different haplotypes with the mutation, and it was found to occur de novo in 2 patients, indicating that it is a mutation hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22744660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Schubert, J., Paravidino, R., Becker, F., Berger, A., Bebek, N., Bianchi, A., Brockmann, K., Capovilla, G., Dalla Bernardina, B., Fukuyama, Y., Hoffmann, G. F., Jurkat-Rott, K., and 25 others. <strong>PRRT2 mutations are the major cause of benign familial infantile seizures.</strong> Hum. Mutat. 33: 1439-1443, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22623405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22623405</a>] [<a href="https://doi.org/10.1002/humu.22126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22623405">Schubert et al. (2012)</a> identified a heterozygous 649dupC mutation in the PRRT2 gene in 39 of 49 families with BFIS2 and in 1 patient with sporadic occurrence of the disorder (77% of index cases). The patients were of German, Italian, Japanese, and Turkish origin. The 649dupC mutation, which occurs in an unstable DNA sequence of 9 cytosines, arose independently in families of different origin. Some unaffected family members also carried the mutation, indicating incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22623405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others. <strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong> J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22399141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22399141</a>] [<a href="https://doi.org/10.1038/jhg.2012.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22399141">Ono et al. (2012)</a> identified the 649dupC mutation in 14 of 15 Japanese families with EKD1, some of whom also had ICCA, and in 2 Japanese families with BFIS2. The mutation was shown to occur de novo in at least 1 family, suggesting that it is a mutation hotspot. EKD1, ICCA, and BFIS2 segregated with the mutation even within the same family. The findings indicated that all 3 disorders are allelic and are likely caused by a similar mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22399141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730882065 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882065;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730882065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024167 OR RCV002513223 OR RCV005000987" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024167, RCV002513223, RCV005000987" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024167...</a>
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<p>In a Han Chinese mother and son with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#1" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. <strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong> Nature Genet. 43: 1252-1255, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>] [<a href="https://doi.org/10.1038/ng.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22101681">Chen et al. (2011)</a> identified a heterozygous 4-bp deletion (514delTCTG) in exon 2 of the PRRT2 gene in the proline-rich domain, resulting in a frameshift and premature termination. The mutation was not found in 1,000 Han Chinese controls. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730882066 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882066;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730882066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024168" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024168" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024168</a>
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<p>In a Han Chinese man with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#1" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. <strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong> Nature Genet. 43: 1252-1255, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>] [<a href="https://doi.org/10.1038/ng.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22101681">Chen et al. (2011)</a> identified a heterozygous 1-bp deletion (972delA) in exon 3 of the PRRT2 gene, resulting in a frameshift and premature termination in the second transmembrane motif. The deceased father was reportedly affected, but DNA was not available. The mutation was not found in 1,000 Han Chinese controls. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
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PRRT2, 1-BP INS, 629C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730882067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882067;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730882067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024169 OR RCV000188767 OR RCV002228054 OR RCV002247391" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024169, RCV000188767, RCV002228054, RCV002247391" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024169...</a>
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<p>In affected members of a large multigenerational family with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; <a href="/entry/602066">602066</a>), <a href="#3" class="mim-tip-reference" title="Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others. <strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong> Am. J. Hum. Genet. 90: 152-160, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243967">Heron et al. (2012)</a> identified a heterozygous 1-bp insertion (629insC) in the PRRT2 gene, resulting in a frameshift and premature termination. There was intrafamilial variability of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907125 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907125;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024170 OR RCV001067788" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024170, RCV001067788" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024170...</a>
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<p>In affected members of a large multigenerational family with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; <a href="/entry/602066">602066</a>), <a href="#3" class="mim-tip-reference" title="Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others. <strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong> Am. J. Hum. Genet. 90: 152-160, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243967">Heron et al. (2012)</a> identified a heterozygous 950G-A transition in the PRRT2 gene, resulting in a ser317-to-asn (S317N) substitution in a highly conserved residue. There was intrafamilial variability of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
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PRRT2, IVS2DS, G-A, +5
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1596893185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1596893185;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1596893185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1596893185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024171" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024171" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024171</a>
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<p>In affected members of a large family with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>), <a href="#3" class="mim-tip-reference" title="Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others. <strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong> Am. J. Hum. Genet. 90: 152-160, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243967">Heron et al. (2012)</a> identified a heterozygous G-to-A transition in intron 2 of the PRRT2 gene (879+5G-A), which reduces the splice site score. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
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PRRT2, ARG240TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907126 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907126;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907126?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 2 families with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; <a href="/entry/602066">602066</a>), <a href="#4" class="mim-tip-reference" title="Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others. <strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong> Cell Rep. 1: 2-12, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22832103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22832103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22832103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2011.11.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22832103">Lee et al. (2012)</a> identified a heterozygous C-to-T transition in the PRRT2 gene, resulting in an arg240-to-ter (R240X) substitution. There was intrafamilial variability of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22832103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730882068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882068;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730882068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024173 OR RCV001386018" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024173, RCV001386018" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024173...</a>
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<p>In affected members of a family with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; <a href="/entry/602066">602066</a>), <a href="#4" class="mim-tip-reference" title="Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others. <strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong> Cell Rep. 1: 2-12, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22832103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22832103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22832103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2011.11.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22832103">Lee et al. (2012)</a> identified a heterozygous 1-bp insertion (516insT) in the PRRT2 gene, resulting in premature termination at residue 173. There was intrafamilial variability of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22832103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907127 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907127;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907127?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024174 OR RCV000024175" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024174, RCV000024175" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024174...</a>
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<p>Using a combination of exome sequencing and linkage analysis in a large Han Chinese family with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#12" class="mim-tip-reference" title="Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others. <strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong> Brain 134: 3493-3501, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awr289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22120146">Wang et al. (2011)</a> identified a heterozygous 487C-T transition in exon 2 of the PRRT2 gene that completely segregated with the phenotype. The mutation was predicted to result in a gln163-to-ter (Q163X) substitution and a truncated protein containing only 162 amino acids and lacking the transmembrane segment. Two patients in the family also had infantile convulsion and choreoathetosis syndrome (ICCA; <a href="/entry/602066">602066</a>). The mutation was not found in 500 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22120146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907128;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907128?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024176 OR RCV002281719 OR RCV003593864" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024176, RCV002281719, RCV003593864" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024176...</a>
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<p>In a Han Chinese mother and daughter with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#12" class="mim-tip-reference" title="Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others. <strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong> Brain 134: 3493-3501, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awr289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22120146">Wang et al. (2011)</a> identified a heterozygous 796C-T transition in exon 2 of the PRRT2 gene, resulting in an arg266-to-trp (R266W) substitution in a highly conserved residue. The mutation was not found in 500 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22120146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587778771 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587778771;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587778771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587778771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032970 OR RCV000188778 OR RCV000820557 OR RCV001253175 OR RCV002496495 OR RCV003242966 OR RCV003389315 OR RCV004532478 OR RCV004786287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032970, RCV000188778, RCV000820557, RCV001253175, RCV002496495, RCV003242966, RCV003389315, RCV004532478, RCV004786287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032970...</a>
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<p>In 2 unrelated children of European descent with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#5" class="mim-tip-reference" title="Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. <strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong> Neurology 79: 170-174, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22744660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22744660</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31825f06c3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22744660">Meneret et al. (2012)</a> identified a heterozygous 1-bp deletion (649delC) in the PRRT2 gene, resulting in a frameshift and premature termination (Arg217GlufsTer12). This deletion occurred at the same nucleotide of a common duplication mutation (649dupC; <a href="#0001">614386.0001</a>), suggesting a mutation hotspot. One patient had a family history of the disorder. The other patient was thought to have sporadic disease, but the mutation was found in a parent, indicating incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22744660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397514578 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514578;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032971" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032971" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032971</a>
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<p>In 3 affected individuals of a family of European descent with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; <a href="/entry/602066">602066</a>), <a href="#5" class="mim-tip-reference" title="Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. <strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong> Neurology 79: 170-174, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22744660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22744660</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31825f06c3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22744660">Meneret et al. (2012)</a> identified a heterozygous 562C-T transition in the PRRT2 gene, resulting in a gln188-to-ter (Q188X) substitution. The mutation was not found in 162 European control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22744660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730882067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882067;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730882067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032972 OR RCV002247412 OR RCV004700298" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032972, RCV002247412, RCV004700298" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032972...</a>
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<p>In affected members of a large 2-generation German family (BFIS19) with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>), <a href="#8" class="mim-tip-reference" title="Schubert, J., Paravidino, R., Becker, F., Berger, A., Bebek, N., Bianchi, A., Brockmann, K., Capovilla, G., Dalla Bernardina, B., Fukuyama, Y., Hoffmann, G. F., Jurkat-Rott, K., and 25 others. <strong>PRRT2 mutations are the major cause of benign familial infantile seizures.</strong> Hum. Mutat. 33: 1439-1443, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22623405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22623405</a>] [<a href="https://doi.org/10.1002/humu.22126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22623405">Schubert et al. (2012)</a> identified a heterozygous 1-bp deletion (629delC) in the PRRT2 gene, resulting in a frameshift and premature termination (Pro210GlnfsTer19). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22623405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730882073 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882073;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730882073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032973" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032973" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032973</a>
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<p>In affected members of an Italian family (BFIS44) with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>), <a href="#8" class="mim-tip-reference" title="Schubert, J., Paravidino, R., Becker, F., Berger, A., Bebek, N., Bianchi, A., Brockmann, K., Capovilla, G., Dalla Bernardina, B., Fukuyama, Y., Hoffmann, G. F., Jurkat-Rott, K., and 25 others. <strong>PRRT2 mutations are the major cause of benign familial infantile seizures.</strong> Hum. Mutat. 33: 1439-1443, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22623405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22623405</a>] [<a href="https://doi.org/10.1002/humu.22126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22623405">Schubert et al. (2012)</a> identified a heterozygous 1-bp deletion (291delC) in the PRRT2 gene, resulting in a frameshift and premature termination (Asn98ThrfsTer17). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22623405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514579 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514579;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514579?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032974 OR RCV000032975" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032974, RCV000032975" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032974...</a>
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<p>In a Japanese woman with episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), <a href="#6" class="mim-tip-reference" title="Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others. <strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong> J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22399141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22399141</a>] [<a href="https://doi.org/10.1038/jhg.2012.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22399141">Ono et al. (2012)</a> identified a heterozygous 748C-T transition in the PRRT2 gene, resulting in a gln250-to-ter (Q250X) substitution in the N-terminal extracellular domain. Her daughter, who had benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>), also carried the mutation. The mutation was not found in 288 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22399141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs730882124 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882124;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs730882124?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730882124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000161142 OR RCV001553390" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000161142, RCV001553390" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000161142...</a>
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<p>In 4 members of a large multigenerational Dutch family with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>), <a href="#7" class="mim-tip-reference" title="Pelzer, N., de Vries, B., Kamphorst, J. T., Vijfhuizen, L. S., Ferrari, M. D., Haan, J., van den Maagdenberg, A. M. J. M., Terwindt, G. M. <strong>PRRT2 and hemiplegic migraine: a complex association.</strong> Neurology 83: 288-290, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24928127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24928127</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24928127">Pelzer et al. (2014)</a> identified a heterozygous 1-bp deletion (c.650delG) in the PRRT2 gene, resulting in a frameshift and premature termination (Arg217GlnfsTer12). Four family members without a history of febrile seizures also carried the mutation, indicating incomplete penetrance. The family had previously been reported by <a href="#10" class="mim-tip-reference" title="Terwindt, G. M., Ophoff, R. A., Lindhout, D., Haan, J., Halley, D. J., Sandkuijl, L. A., Brouwer, O. F., Frants, R. R., Ferrari, M. D. <strong>Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.</strong> Epilepsia 38: 915-921, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9579893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9579893</a>] [<a href="https://doi.org/10.1111/j.1528-1157.1997.tb01257.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9579893">Terwindt et al. (1997)</a> and <a href="#11" class="mim-tip-reference" title="Vanmolkot, K. R. J., Kors, E. E., Hottenga, J.-J., Terwindt, G. M., Haan, J., Hoefnagels, W. A. J., Black, D. F., Sandkuijl, L. A., Frants, R. R., Ferrari, M. D., van den Maagdenberg, A. M. J. M. <strong>Novel mutations in the Na(+),K(+)-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.</strong> Ann. Neurol. 54: 360-366, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12953268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12953268</a>] [<a href="https://doi.org/10.1002/ana.10674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12953268">Vanmolkot et al. (2003)</a> as having both benign familial infantile seizures and familial hemiplegic migraine-2 (FHM2; <a href="/entry/602481">602481</a>) associated with a heterozygous mutation in the ATP1A2 gene (R689Q; <a href="/entry/182340#0004">182340.0004</a>). Thus, 2 different neurologic disorders segregated in this family; the diagnosis was more complex as both disorders showed incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9579893+24928127+12953268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chen2011" class="mim-anchor"></a>
|
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Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y.
|
|
<strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong>
|
|
Nature Genet. 43: 1252-1255, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.1008" target="_blank">Full Text</a>]
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<a id="Heron2013" class="mim-anchor"></a>
|
|
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Heron, S. E., Dibbens, L. M.
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<strong>Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.</strong>
|
|
J. Med. Genet. 50: 133-139, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23343561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23343561</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23343561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-101406" target="_blank">Full Text</a>]
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<a id="Heron2012" class="mim-anchor"></a>
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Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others.
|
|
<strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong>
|
|
Am. J. Hum. Genet. 90: 152-160, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.12.003" target="_blank">Full Text</a>]
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<a id="Lee2012" class="mim-anchor"></a>
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Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others.
|
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<strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong>
|
|
Cell Rep. 1: 2-12, 2012.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22832103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22832103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22832103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22832103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.celrep.2011.11.001" target="_blank">Full Text</a>]
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<a id="Meneret2012" class="mim-anchor"></a>
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Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others.
|
|
<strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong>
|
|
Neurology 79: 170-174, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22744660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22744660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22744660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e31825f06c3" target="_blank">Full Text</a>]
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<a id="Ono2012" class="mim-anchor"></a>
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Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others.
|
|
<strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong>
|
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J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22399141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22399141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22399141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jhg.2012.23" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Pelzer2014" class="mim-anchor"></a>
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<div class="">
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Pelzer, N., de Vries, B., Kamphorst, J. T., Vijfhuizen, L. S., Ferrari, M. D., Haan, J., van den Maagdenberg, A. M. J. M., Terwindt, G. M.
|
|
<strong>PRRT2 and hemiplegic migraine: a complex association.</strong>
|
|
Neurology 83: 288-290, 2014.
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|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24928127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24928127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24928127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0000000000000590" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Schubert2012" class="mim-anchor"></a>
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<div class="">
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Schubert, J., Paravidino, R., Becker, F., Berger, A., Bebek, N., Bianchi, A., Brockmann, K., Capovilla, G., Dalla Bernardina, B., Fukuyama, Y., Hoffmann, G. F., Jurkat-Rott, K., and 25 others.
|
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<strong>PRRT2 mutations are the major cause of benign familial infantile seizures.</strong>
|
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Hum. Mutat. 33: 1439-1443, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22623405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22623405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22623405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22126" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Striano2006" class="mim-anchor"></a>
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Striano, P., Lispi, M. L., Gennaro, E., Madia, F., Traverso, M., Bordo, L., Aridon, P., Boneschi, F. M., Barone, B., dalla Bernardina, B., Bianchi, A., and 15 others.
|
|
<strong>Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.</strong>
|
|
Epilepsia 47: 1029-1034, 2006.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16822249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16822249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16822249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1528-1167.2006.00521.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Terwindt1997" class="mim-anchor"></a>
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<div class="">
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Terwindt, G. M., Ophoff, R. A., Lindhout, D., Haan, J., Halley, D. J., Sandkuijl, L. A., Brouwer, O. F., Frants, R. R., Ferrari, M. D.
|
|
<strong>Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.</strong>
|
|
Epilepsia 38: 915-921, 1997.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9579893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9579893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9579893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1528-1157.1997.tb01257.x" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Vanmolkot2003" class="mim-anchor"></a>
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<div class="">
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Vanmolkot, K. R. J., Kors, E. E., Hottenga, J.-J., Terwindt, G. M., Haan, J., Hoefnagels, W. A. J., Black, D. F., Sandkuijl, L. A., Frants, R. R., Ferrari, M. D., van den Maagdenberg, A. M. J. M.
|
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<strong>Novel mutations in the Na(+),K(+)-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.</strong>
|
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Ann. Neurol. 54: 360-366, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12953268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12953268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12953268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10674" target="_blank">Full Text</a>]
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<a id="Wang2011" class="mim-anchor"></a>
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Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others.
|
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<strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong>
|
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Brain 134: 3493-3501, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22120146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awr289" target="_blank">Full Text</a>]
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<a id="Weber2004" class="mim-anchor"></a>
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Weber, Y. G., Berger, A., Bebek, N., Maier, S., Karafyllakes, S., Meyer, N., Fukuyama, Y., Halbach, A., Hikel, C., Kurlemann, G., Neubauer, B., Osawa, M., Pust, B., Rating, D., Saito, K., Stephani, U., Tauer, U., Lehmann-Horn, F., Jurkat-Rott, K., Lerche, H.
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<strong>Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.</strong>
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Epilepsia 45: 601-609, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15144424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15144424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15144424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.0013-9580.2004.48203.x" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/12/2015
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/12/2013<br>Cassandra L. Kniffin - updated : 11/7/2012<br>Cassandra L. Kniffin - updated : 10/25/2012<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 2/15/2012<br>Cassandra L. Kniffin - updated : 12/12/2011
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Creation Date:
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Patricia A. Hartz : 12/9/2011
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carol : 01/23/2024
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carol : 02/19/2015<br>mcolton : 2/18/2015<br>ckniffin : 2/12/2015<br>carol : 8/29/2013<br>carol : 8/14/2013<br>ckniffin : 8/12/2013<br>alopez : 12/13/2012<br>terry : 11/15/2012<br>carol : 11/7/2012<br>ckniffin : 11/7/2012<br>carol : 11/5/2012<br>ckniffin : 10/25/2012<br>terry : 4/6/2012<br>carol : 4/6/2012<br>ckniffin : 4/5/2012<br>carol : 2/21/2012<br>ckniffin : 2/15/2012<br>carol : 12/12/2011<br>ckniffin : 12/12/2011<br>mgross : 12/9/2011
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<span class="mim-font">
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<strong>*</strong> 614386
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<h3>
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PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2
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<strong><em>HGNC Approved Gene Symbol: PRRT2</em></strong>
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<strong>SNOMEDCT:</strong> 715534008;
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<strong>
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Cytogenetic location: 16p11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:29,812,193-29,815,881 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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16p11.2
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<span class="mim-font">
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Convulsions, familial infantile, with paroxysmal choreoathetosis
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<span class="mim-font">
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602066
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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Episodic kinesigenic dyskinesia 1
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<span class="mim-font">
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128200
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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Seizures, benign familial infantile, 2
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<span class="mim-font">
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605751
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Chen et al. (2011) identified PRRT2 within a region of chromosome 16 linked to the paroxysmal kinesigenic dyskinesia locus (EKD1; 128200). The deduced 340-amino acid protein has a proline-rich domain in its N-terminal half and 2 transmembrane domains in its C-terminal half. RT-PCR of mouse tissues detected high Prrt2 expression in brain and spinal cord, with negligible expression in all other tissues examined. Prrt2 expression in mouse was low prior to embryonic day 16, after which it increased, peaked at postnatal day 14, and declined in adult. RT-PCR and in situ hybridization of postnatal day-14 mouse brain revealed high Prrt2 expression in cerebral cortex, hippocampus, and cerebellum, with enrichment in cortical layers of cerebral cortex, as well as in granule cells and Purkinje cell layers of cerebellum. Fluorescence-tagged PRRT2 was expressed in the membrane of transfected COS-7 cells. </p><p>Heron et al. (2012) found that Prrt2 was widely expressed in the mouse brain, with high expression in the cerebral cortex and lower expression in the basal ganglia. </p>
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<strong>Gene Structure</strong>
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<p>Chen et al. (2011) determined that the PRRT2 gene contains 4 exons, the first of which is noncoding. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Chen et al. (2011) stated that the PRRT2 gene maps to chromosome 16p11.2. </p>
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<strong>Gene Function</strong>
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<p>In HEK293T cells and brain extracts from mice, Lee et al. (2012) demonstrated that the PRRT2 protein interacted with SNAP25 (600322), a synaptosomal membrane. After transfection of PRRT2 into rat hippocampal cells, PRRT2 was detected in thin axonal processes exiting from the neuron cell bodies. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>In affected members of 8 unrelated Han Chinese families with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Chen et al. (2011) identified 3 different heterozygous truncating mutations in the PRRT2 gene (614386.0001-614386.0003). The first mutation was found by exome sequencing of a large 4-generation family with 17 affected individuals. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm, suggesting interruption of protein function. </p><p>Using a combination of exome sequencing and linkage analysis in 2 large Han Chinese families with EKD1, Wang et al. (2011) independently and simultaneously identified 2 different heterozygous truncating mutations in the PRRT2 gene (649dupC, 614386.0001 and Q163X, 614386.0009, respectively) that completely segregated with the phenotype in each family. Two patients in each family also had infantile convulsion and choreoathetosis syndrome (ICCA; 602066). Analysis of 3 additional Han Chinese families with EKD1 revealed that 2 carried the 649dupC mutation and 1 had a different PRRT2 mutation (614386.0010). </p><p>Heron et al. (2012) identified heterozygous mutations in the PRRT2 gene (see, e.g., 614386.0001 and 614386.0004-614386.0006) in 14 (82%) of 17 families with benign familial infantile seizures-2 (BFIS2; 605751), and in 5 (83%) of 6 families with familial infantile convulsions with paroxysmal choreoathetosis, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (EKD1), cooccur. The 649dupC mutation (614386.0001) was the most common mutation, found in affected members of 12 families with BFIS2 and in 3 families with ICCA. Overall, the 649dupC mutation was found in 15 (79%) of the 19 families with ICCA or BFIS2 studied. The families were of different ethnic origin, including Australasian of western European heritage, Swedish, and Israeli Sephardic-Jewish, and there was no evidence of a common haplotype among these families, indicating a mutation hotspot. These findings demonstrated that mutations in PRRT2 cause both epilepsy and a movement disorder, with obvious pleiotropy in age of expression. </p><p>Lee et al. (2012) also identified heterozygous mutations in the PRRT2 gene (see, e.g., 614386.0007 and 614386.0008) in affected members of families with ICCA. The mutations were identified by whole-genome sequencing of 6 well-characterized families. The findings were confirmed by the identification of PRRT2 mutations in 24 of 25 additional families with the disorder. The 649dupC mutation was the most common mutation. Sanger sequencing of a third cohort of 78 probands with a less clear clinical diagnosis found that 10 patients with familial disease and 17 with sporadic disease had the common 649dupC mutation; 1 additional patient had a different truncating PRRT2 mutation. None of the pathogenic alleles were found in over 2,500 control chromosomes. There was intrafamilial variability of the phenotype. In vitro functional expression assays showed that the mutant truncating proteins were not expressed and did not exert dominant-negative effect on the wildtype protein, suggesting haploinsufficiency as the pathologic mechanism. </p><p>Meneret et al. (2012) identified heterozygous mutations in the PRRT2 gene (see, e.g., 614386.0001; 614386.0011-614386.0012) in 22 (65%) of 34 patients of European descent with EKD1 or ICCA. Mutations were found in 13 (93%) of 14 familial cases and in 9 (45%) of 20 sporadic cases. There was evidence for incomplete penetrance. The most common mutation was 649dupC, which was found in 17 of the 22 patients with PRRT2 mutations, although this was not due to a founder effect. Compared to patients without PRRT2 mutations, those with mutations had a slightly earlier age at onset (median age of 15 years and 9 years, respectively), but otherwise there were no phenotypic differences between the 2 groups. Most of the mutations caused premature termination, leading Meneret et al. (2012) to suggest that the disorders result from PRRT2 haploinsufficiency. </p><p>Schubert et al. (2012) identified a heterozygous 649dupC mutation in the PRRT2 gene in 39 of 49 families with BFIS2 and in 1 patient with sporadic occurrence of the disorder (77% of index cases). Three additional heterozygous PRRT2 mutations (see, e.g., 614386.0013; 614386.0014) were found in 3 other families with the disorder. The patients were of German, Italian, Japanese, and Turkish origin. Some of the families had previously been reported by Striano et al. (2006) and Weber et al. (2004). The 649dupC mutation, which occurs in an unstable DNA sequence of 9 cytosines, arose independently in families of different origin. Some unaffected family members also carried the mutation, indicating incomplete penetrance. </p><p>Ono et al. (2012) identified the 649dupC mutation in 14 of 15 Japanese families with EKD1, some of whom also had ICCA, and in 2 Japanese families with BFIS2. The mutation was shown to occur de novo in at least 1 family, suggesting that it is a mutation hotspot. EKD1, ICCA, and BFIS2 segregated with the mutation even within the same family. The findings indicated that all 3 disorders are allelic and are likely caused by a similar mechanism. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Heron and Dibbens (2013) reviewed the role of PRRT2 in 3 common neurologic disorders, EKD1, ICCA, and BFIS2, noting that there are no clear genotype/phenotype correlations. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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<strong>16 Selected Examples):</strong>
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<p />
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<span class="mim-font">
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<strong>.0001 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
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CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, INCLUDED<br />
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SEIZURES, BENIGN FAMILIAL INFANTILE, 2, INCLUDED
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PRRT2, 1-BP DUP, 649C
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ClinVar: RCV000055991, RCV000153783, RCV000188779, RCV000193894, RCV000585818, RCV000768059, RCV000791409, RCV000991298, RCV001264813, RCV001563615, RCV002273952, RCV002280097, RCV002313738, RCV002470742, RCV004584342, RCV004798766
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<p>In affected members of 6 unrelated Han Chinese families with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Chen et al. (2011) identified a heterozygous 1-bp duplication (649dupC) in exon 2 of the PRRT2 gene in the proline-rich domain, resulting in a frameshift and introduction of a stop codon 7 amino acids downstream of the insertion (Arg217ProfsTer8). The mutation was found by exome sequencing of a large 4-generation family with 17 affected individuals. The mutation completely segregated with the phenotype in each family and was not found in unaffected family members. The mutation was not found in 1,000 Han Chinese controls. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm. A 189-kb common haplotype flanking the mutation was found in 3 of the families, a second different haplotype was found in 2 other families, and a third haplotype was found in the third family. Clinical features of the proband of 1 family was described in detail. He had onset at age 6 years of dystonic posturing of the head and arm, usually triggered by standing up quickly. This occurred up to 10 times per day, and lasted about 5 to 10 minutes. Brain MRI and EEG were normal at age 9 years. Treatment with carbamazepine resulted in complete symptom resolution. </p><p>Using a combination of exome sequencing and linkage analysis in a large Han Chinese family with EKD1, Wang et al. (2011) independently and simultaneously identified a heterozygous 649dupC mutation in the PRRT2 gene that completely segregated with the phenotype. The mutation was predicted to result in a truncated protein containing only 223 amino acids and lacking the transmembrane segment. Two patients in the family also had infantile convulsion and choreoathetosis syndrome (ICCA; 602066). Analysis of 3 additional Han Chinese families with EKD1 revealed that 2 carried the 649dupC mutation. The mutation was not found in 500 controls. There was some phenotypic variability: the first family had dystonia, choreoathetosis or athetosis, the second family had predominant dystonia of the upper limbs, whereas the third had predominant dystonia of the lower limbs. </p><p>In affected members of 3 unrelated families with familial infantile convulsions with paroxysmal choreoathetosis, Heron et al. (2012) identified a heterozygous 649dupC mutation. This heterozygous mutation was also found in 12 unrelated families with benign familial infantile seizures-2 (BFIS2; 605751). Overall, the 649dupC mutation was found in 15 (79%) of the 19 families with ICCA or BFIS2 studied. There was no evidence of a common haplotype among these families. The PRRT2 649dupC mutation clearly occurs at a mutation hotspot, and occurs in a homopolymer of 9 C bases adjacent to 4 G bases. This DNA sequence has the potential to form a hairpin-loop structure, possibly leading to DNA-polymerase slippage and the insertion of an extra C base during DNA replication. </p><p>Meneret et al. (2012) found that the 649dupC mutation was the most common mutation in a cohort of patients of European descent with EKD1/ICCA. The mutation was present in 17 of 22 patients with PRRT2 mutations. Several unaffected family members also carried the mutation, indicating incomplete penetrance. There were at least 5 different haplotypes with the mutation, and it was found to occur de novo in 2 patients, indicating that it is a mutation hotspot. </p><p>Schubert et al. (2012) identified a heterozygous 649dupC mutation in the PRRT2 gene in 39 of 49 families with BFIS2 and in 1 patient with sporadic occurrence of the disorder (77% of index cases). The patients were of German, Italian, Japanese, and Turkish origin. The 649dupC mutation, which occurs in an unstable DNA sequence of 9 cytosines, arose independently in families of different origin. Some unaffected family members also carried the mutation, indicating incomplete penetrance. </p><p>Ono et al. (2012) identified the 649dupC mutation in 14 of 15 Japanese families with EKD1, some of whom also had ICCA, and in 2 Japanese families with BFIS2. The mutation was shown to occur de novo in at least 1 family, suggesting that it is a mutation hotspot. EKD1, ICCA, and BFIS2 segregated with the mutation even within the same family. The findings indicated that all 3 disorders are allelic and are likely caused by a similar mechanism. </p>
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<strong>.0002 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, 4-BP DEL, 514TCTG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882065,
|
|
|
|
|
|
|
|
ClinVar: RCV000024167, RCV002513223, RCV005000987
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Han Chinese mother and son with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Chen et al. (2011) identified a heterozygous 4-bp deletion (514delTCTG) in exon 2 of the PRRT2 gene in the proline-rich domain, resulting in a frameshift and premature termination. The mutation was not found in 1,000 Han Chinese controls. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, 1-BP DEL, 972A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882066,
|
|
|
|
|
|
|
|
ClinVar: RCV000024168
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Han Chinese man with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Chen et al. (2011) identified a heterozygous 1-bp deletion (972delA) in exon 3 of the PRRT2 gene, resulting in a frameshift and premature termination in the second transmembrane motif. The deceased father was reportedly affected, but DNA was not available. The mutation was not found in 1,000 Han Chinese controls. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, 1-BP INS, 629C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882067,
|
|
|
|
|
|
|
|
ClinVar: RCV000024169, RCV000188767, RCV002228054, RCV002247391
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large multigenerational family with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; 602066), Heron et al. (2012) identified a heterozygous 1-bp insertion (629insC) in the PRRT2 gene, resulting in a frameshift and premature termination. There was intrafamilial variability of the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, SER317ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907125,
|
|
|
|
|
|
|
|
ClinVar: RCV000024170, RCV001067788
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large multigenerational family with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; 602066), Heron et al. (2012) identified a heterozygous 950G-A transition in the PRRT2 gene, resulting in a ser317-to-asn (S317N) substitution in a highly conserved residue. There was intrafamilial variability of the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, IVS2DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1596893185,
|
|
|
|
|
|
|
|
ClinVar: RCV000024171
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large family with benign familial infantile seizures-2 (BFIS2; 605751), Heron et al. (2012) identified a heterozygous G-to-A transition in intron 2 of the PRRT2 gene (879+5G-A), which reduces the splice site score. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, ARG240TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907126,
|
|
|
|
|
|
gnomAD: rs387907126,
|
|
|
|
|
|
ClinVar: RCV000024172, RCV000431690, RCV000817890, RCV002247392, RCV002288519
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 families with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; 602066), Lee et al. (2012) identified a heterozygous C-to-T transition in the PRRT2 gene, resulting in an arg240-to-ter (R240X) substitution. There was intrafamilial variability of the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, 1-BP INS, 516T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882068,
|
|
|
|
|
|
|
|
ClinVar: RCV000024173, RCV001386018
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; 602066), Lee et al. (2012) identified a heterozygous 1-bp insertion (516insT) in the PRRT2 gene, resulting in premature termination at residue 173. There was intrafamilial variability of the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, GLN163TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907127,
|
|
|
|
|
|
gnomAD: rs387907127,
|
|
|
|
|
|
ClinVar: RCV000024174, RCV000024175
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using a combination of exome sequencing and linkage analysis in a large Han Chinese family with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Wang et al. (2011) identified a heterozygous 487C-T transition in exon 2 of the PRRT2 gene that completely segregated with the phenotype. The mutation was predicted to result in a gln163-to-ter (Q163X) substitution and a truncated protein containing only 162 amino acids and lacking the transmembrane segment. Two patients in the family also had infantile convulsion and choreoathetosis syndrome (ICCA; 602066). The mutation was not found in 500 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, ARG266TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907128,
|
|
|
|
|
|
gnomAD: rs387907128,
|
|
|
|
|
|
ClinVar: RCV000024176, RCV002281719, RCV003593864
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Han Chinese mother and daughter with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Wang et al. (2011) identified a heterozygous 796C-T transition in exon 2 of the PRRT2 gene, resulting in an arg266-to-trp (R266W) substitution in a highly conserved residue. The mutation was not found in 500 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, 1-BP DEL, 649C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587778771,
|
|
|
|
|
|
|
|
ClinVar: RCV000032970, RCV000188778, RCV000820557, RCV001253175, RCV002496495, RCV003242966, RCV003389315, RCV004532478, RCV004786287
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated children of European descent with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Meneret et al. (2012) identified a heterozygous 1-bp deletion (649delC) in the PRRT2 gene, resulting in a frameshift and premature termination (Arg217GlufsTer12). This deletion occurred at the same nucleotide of a common duplication mutation (649dupC; 614386.0001), suggesting a mutation hotspot. One patient had a family history of the disorder. The other patient was thought to have sporadic disease, but the mutation was found in a parent, indicating incomplete penetrance. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, GLN188TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514578,
|
|
|
|
|
|
|
|
ClinVar: RCV000032971
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected individuals of a family of European descent with familial infantile convulsions with paroxysmal choreoathetosis (ICCA; 602066), Meneret et al. (2012) identified a heterozygous 562C-T transition in the PRRT2 gene, resulting in a gln188-to-ter (Q188X) substitution. The mutation was not found in 162 European control individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, 1-BP DEL, 629C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882067,
|
|
|
|
|
|
|
|
ClinVar: RCV000032972, RCV002247412, RCV004700298
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large 2-generation German family (BFIS19) with benign familial infantile seizures-2 (BFIS2; 605751), Schubert et al. (2012) identified a heterozygous 1-bp deletion (629delC) in the PRRT2 gene, resulting in a frameshift and premature termination (Pro210GlnfsTer19). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, 1-BP DEL, 291C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882073,
|
|
|
|
|
|
|
|
ClinVar: RCV000032973
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of an Italian family (BFIS44) with benign familial infantile seizures-2 (BFIS2; 605751), Schubert et al. (2012) identified a heterozygous 1-bp deletion (291delC) in the PRRT2 gene, resulting in a frameshift and premature termination (Asn98ThrfsTer17). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 EPISODIC KINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRRT2, GLN250TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514579,
|
|
|
|
|
|
gnomAD: rs397514579,
|
|
|
|
|
|
ClinVar: RCV000032974, RCV000032975
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
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<p>In a Japanese woman with episodic kinesigenic dyskinesia-1 (EKD1; 128200), Ono et al. (2012) identified a heterozygous 748C-T transition in the PRRT2 gene, resulting in a gln250-to-ter (Q250X) substitution in the N-terminal extracellular domain. Her daughter, who had benign familial infantile seizures-2 (BFIS2; 605751), also carried the mutation. The mutation was not found in 288 controls. </p>
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<strong>.0016 SEIZURES, BENIGN FAMILIAL INFANTILE, 2</strong>
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PRRT2, 1-BP DEL, 650G
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SNP: rs730882124,
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gnomAD: rs730882124,
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ClinVar: RCV000161142, RCV001553390
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<p>In 4 members of a large multigenerational Dutch family with benign familial infantile seizures-2 (BFIS2; 605751), Pelzer et al. (2014) identified a heterozygous 1-bp deletion (c.650delG) in the PRRT2 gene, resulting in a frameshift and premature termination (Arg217GlnfsTer12). Four family members without a history of febrile seizures also carried the mutation, indicating incomplete penetrance. The family had previously been reported by Terwindt et al. (1997) and Vanmolkot et al. (2003) as having both benign familial infantile seizures and familial hemiplegic migraine-2 (FHM2; 602481) associated with a heterozygous mutation in the ATP1A2 gene (R689Q; 182340.0004). Thus, 2 different neurologic disorders segregated in this family; the diagnosis was more complex as both disorders showed incomplete penetrance. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y.
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<strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong>
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Nature Genet. 43: 1252-1255, 2011.
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[PubMed: 22101681]
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[Full Text: https://doi.org/10.1038/ng.1008]
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<li>
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<p class="mim-text-font">
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Heron, S. E., Dibbens, L. M.
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<strong>Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.</strong>
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J. Med. Genet. 50: 133-139, 2013.
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[PubMed: 23343561]
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[Full Text: https://doi.org/10.1136/jmedgenet-2012-101406]
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Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others.
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<strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong>
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Am. J. Hum. Genet. 90: 152-160, 2012.
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[PubMed: 22243967]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.12.003]
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Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others.
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<strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong>
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Cell Rep. 1: 2-12, 2012.
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[PubMed: 22832103]
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[Full Text: https://doi.org/10.1016/j.celrep.2011.11.001]
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Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others.
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<strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong>
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Neurology 79: 170-174, 2012.
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[PubMed: 22744660]
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[Full Text: https://doi.org/10.1212/WNL.0b013e31825f06c3]
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Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others.
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<strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong>
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J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.
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[PubMed: 22399141]
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[Full Text: https://doi.org/10.1038/jhg.2012.23]
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Pelzer, N., de Vries, B., Kamphorst, J. T., Vijfhuizen, L. S., Ferrari, M. D., Haan, J., van den Maagdenberg, A. M. J. M., Terwindt, G. M.
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<strong>PRRT2 and hemiplegic migraine: a complex association.</strong>
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Neurology 83: 288-290, 2014.
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[PubMed: 24928127]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000590]
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Schubert, J., Paravidino, R., Becker, F., Berger, A., Bebek, N., Bianchi, A., Brockmann, K., Capovilla, G., Dalla Bernardina, B., Fukuyama, Y., Hoffmann, G. F., Jurkat-Rott, K., and 25 others.
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<strong>PRRT2 mutations are the major cause of benign familial infantile seizures.</strong>
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Hum. Mutat. 33: 1439-1443, 2012.
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[PubMed: 22623405]
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[Full Text: https://doi.org/10.1002/humu.22126]
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Striano, P., Lispi, M. L., Gennaro, E., Madia, F., Traverso, M., Bordo, L., Aridon, P., Boneschi, F. M., Barone, B., dalla Bernardina, B., Bianchi, A., and 15 others.
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<strong>Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.</strong>
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Epilepsia 47: 1029-1034, 2006.
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[PubMed: 16822249]
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[Full Text: https://doi.org/10.1111/j.1528-1167.2006.00521.x]
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Terwindt, G. M., Ophoff, R. A., Lindhout, D., Haan, J., Halley, D. J., Sandkuijl, L. A., Brouwer, O. F., Frants, R. R., Ferrari, M. D.
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<strong>Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.</strong>
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Epilepsia 38: 915-921, 1997.
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[PubMed: 9579893]
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[Full Text: https://doi.org/10.1111/j.1528-1157.1997.tb01257.x]
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Vanmolkot, K. R. J., Kors, E. E., Hottenga, J.-J., Terwindt, G. M., Haan, J., Hoefnagels, W. A. J., Black, D. F., Sandkuijl, L. A., Frants, R. R., Ferrari, M. D., van den Maagdenberg, A. M. J. M.
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<strong>Novel mutations in the Na(+),K(+)-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.</strong>
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Ann. Neurol. 54: 360-366, 2003.
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[PubMed: 12953268]
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[Full Text: https://doi.org/10.1002/ana.10674]
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Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others.
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<strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong>
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Brain 134: 3493-3501, 2011.
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[PubMed: 22120146]
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[Full Text: https://doi.org/10.1093/brain/awr289]
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Weber, Y. G., Berger, A., Bebek, N., Maier, S., Karafyllakes, S., Meyer, N., Fukuyama, Y., Halbach, A., Hikel, C., Kurlemann, G., Neubauer, B., Osawa, M., Pust, B., Rating, D., Saito, K., Stephani, U., Tauer, U., Lehmann-Horn, F., Jurkat-Rott, K., Lerche, H.
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<strong>Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.</strong>
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Epilepsia 45: 601-609, 2004.
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[PubMed: 15144424]
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[Full Text: https://doi.org/10.1111/j.0013-9580.2004.48203.x]
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Cassandra L. Kniffin - updated : 2/12/2015<br>Cassandra L. Kniffin - updated : 8/12/2013<br>Cassandra L. Kniffin - updated : 11/7/2012<br>Cassandra L. Kniffin - updated : 10/25/2012<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 2/15/2012<br>Cassandra L. Kniffin - updated : 12/12/2011
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