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<title>
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Entry
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- #149400 - HYPEREKPLEXIA 1; HKPX1
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- OMIM
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<span class="h4">#149400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/149400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS149400"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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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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<div><a href="https://clinicaltrials.gov/search?cond=(HYPEREKPLEXIA) OR (GLRA1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2862&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1260/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3551" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=149400[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3197" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/beac72fa-d6f6-4680-93b8-0030881454ce/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></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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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060696" 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="http://www.informatics.jax.org/disease/149400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000689,000928" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060696" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></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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<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> 724351008<br />
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<strong>ORPHA:</strong> 3197<br />
|
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<strong>DO:</strong> 0060696<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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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149400
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</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
HYPEREKPLEXIA 1; HKPX1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
STARTLE DISEASE, FAMILIAL<br />
|
|
STARTLE REACTION, EXAGGERATED<br />
|
|
EXAGGERATED STARTLE REACTION<br />
|
|
STHE<br />
|
|
STIFF-BABY SYNDROME<br />
|
|
STIFF-MAN SYNDROME, CONGENITAL<br />
|
|
STIFF-PERSON SYNDROME, CONGENITAL<br />
|
|
KOK DISEASE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/691?start=-3&limit=10&highlight=691">
|
|
5q33.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hyperekplexia 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/149400"> 149400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GLRA1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138491"> 138491 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/149400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS149400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/149400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/149400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
|
|
Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br /> -
|
|
Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/157265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">157265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/S73.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">S73.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">835</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertonicity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41581000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41581000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026826</a>, <a href="https://bioportal.bioontology.org/search?q=C0235396&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235396</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span><br /> -
|
|
Hypokinesia in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835615</a>]</span><br /> -
|
|
Exaggerated startle response <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1740801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1740801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002267</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002267</a>]</span><br /> -
|
|
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
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Nocturnal seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230445007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230445007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393719</a>, <a href="https://bioportal.bioontology.org/search?q=C0748605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0748605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031951" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031951</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031951" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031951</a>]</span><br /> -
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Episodic generalized skeletal muscle contractions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835616</a>]</span><br /> -
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Frequent falls <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0850703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0850703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002359</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002359</a>]</span><br /> -
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Hyperactive brainstem reflexes (head retraction, palmomental, snout) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835617</a>]</span><br /> -
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EMG shows continuous motor unit firing at rest <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835618</a>]</span><br /> -
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EEG during episodes shows desynchronization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835619</a>]</span><br />
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</span>
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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 class="h5 mim-font">
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<em> Behavioral Psychiatric Manifestations </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Alert affect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835620</a>]</span><br /> -
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Tense affect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835621</a>]</span><br /> -
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Frightened expression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835622</a>]</span><br />
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</span>
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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 class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
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Infants may die from apnea or aspiration<br /> -
|
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Good response to clonazepam<br /> -
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See also adult-onset stiff person syndrome (<a href="/entry/184850">184850</a>)<br />
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</span>
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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 class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the alpha-1 subunit of the glycine receptor gene (GLRA1, <a href="/entry/138491#0001">138491.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
|
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Hyperekplexia
|
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- <a href="/phenotypicSeries/PS149400">PS149400</a>
|
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- 4 Entries
|
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</h5>
|
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</div>
|
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
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<thead>
|
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<tr>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
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</th>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/633?start=-3&limit=10&highlight=633"> 4q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614619"> Hyperekplexia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614619"> 614619 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138492"> GLRB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138492"> 138492 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/691?start=-3&limit=10&highlight=691"> 5q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/149400"> Hyperekplexia 1 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/149400"> 149400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138491"> GLRA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138491"> 138491 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/366?start=-3&limit=10&highlight=366"> 10q23.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618011"> Hyperekplexia 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618011"> 618011 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614452"> ATAD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614452"> 614452 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/239?start=-3&limit=10&highlight=239"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614618"> Hyperekplexia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614618"> 614618 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604159"> SLC6A5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604159"> 604159 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
|
</div>
|
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|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because hyperekplexia-1 (HKPX1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene (<a href="/entry/138491">138491</a>) on chromosome 5q33.</p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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|
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
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<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by <a href="#17" class="mim-tip-reference" title="Ryan, S. G., Dixon, M. J., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J. C., Shiang, R., Wasmuth, J. J., O'Connell, P. <strong>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.</strong> Am. J. Hum. Genet. 51: 1334-1343, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1334371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1334371</a>]" pmid="1334371">Ryan et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1334371" 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><strong><em>Genetic Heterogeneity of Hyperekplexia</em></strong></p><p>
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See also HKPX2 (<a href="/entry/614619">614619</a>), caused by mutation in the GLRB gene (<a href="/entry/138492">138492</a>) on chromosome 4q31; HKPX3 (<a href="/entry/614618">614618</a>), caused by mutation in the GLYT2 gene (SLC6A5; <a href="/entry/604159">604159</a>) on chromosome 11p15; and HKPX4 (<a href="/entry/618011">618011</a>), caused by mutation in the ATAD1 gene (<a href="/entry/614452">614452</a>) on chromosome 10q23.</p><p>Hyperekplexia can also occur in developmental and epileptic encephalopathy-8 (DEE8; <a href="/entry/300607">300607</a>), caused by mutation in the ARHGEF9 gene (<a href="/entry/300429">300429</a>).</p><p>See also sporadic stiff-man syndrome (<a href="/entry/184850">184850</a>) and the 'Jumping Frenchmen of Maine' (<a href="/entry/244100">244100</a>).</p>
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<p><a href="#17" class="mim-tip-reference" title="Ryan, S. G., Dixon, M. J., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J. C., Shiang, R., Wasmuth, J. J., O'Connell, P. <strong>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.</strong> Am. J. Hum. Genet. 51: 1334-1343, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1334371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1334371</a>]" pmid="1334371">Ryan et al. (1992)</a> suggested that this disorder was first described by <a href="#7" class="mim-tip-reference" title="Kirstein, L., Silfverskiold, B. P. <strong>A family with emotionally precipitated 'drop seizures'.</strong> Acta Psychiat. Neurol. Scand. 33: 471-476, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13594585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13594585</a>] [<a href="https://doi.org/10.1111/j.1600-0447.1958.tb03533.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13594585">Kirstein and Silfverskiold (1958)</a>, who reported a 'family with emotionally precipitated drop seizures.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1334371+13594585" 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="#25" class="mim-tip-reference" title="Suhren, O., Bruyn, G. W., Tuynman, J. A. <strong>Hyperexplexia, a hereditary startle syndrome.</strong> J. Neurol. Sci. 3: 577-605, 1966."None>Suhren et al. (1966)</a> described a family in which 25 persons spanning 5 generations with numerous instances of male-to-male transmission had transient congenital hypertonia that disappeared with sleep; hypertonia diminished during the first year of life. Later in life, affected individuals showed greatly exaggerated startle responses, which were sometimes associated with falling, markedly hyperactive brainstem reflexes (e.g., head retraction, palmomental and snout reflexes), and a momentary generalized jerking on falling asleep. The authors suggested an uninhibited nociceptive reflex pattern as a result of a defect in maturation. Barbiturate medication resulted in improvement. See also <a href="#9" class="mim-tip-reference" title="Kok, O., Bruyn, G. W. <strong>An unidentified hereditary disease. (Letter)</strong> Lancet 279: 1359 only, 1962. Note: Originally Volume I."None>Kok and Bruyn (1962)</a> (Kok and Suhren are the same person <a href="#26" class="mim-tip-reference" title="Went, L. N. <strong>Personal Communication.</strong> Leiden, The Netherlands 1974."None>Went, 1974</a>).</p><p><a href="#8" class="mim-tip-reference" title="Klein, R., Haddow, J. E., DeLuca, C. <strong>Familial congenital disorder resembling stiff-man syndrome.</strong> Am. J. Dis. Child. 124: 730-731, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4508100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4508100</a>] [<a href="https://doi.org/10.1001/archpedi.1972.02110170108018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4508100">Klein et al. (1972)</a> reported a family in which 10 persons spanning 3 generations had a congenital form of stiff-man syndrome. Affected members had attacks of stiffness precipitated by surprise or minor physical contact and characterized by difficulty in making sudden movements; signs of myotonia or myokymia were not present. During the episodes, EMG showed continuous activity at rest with normal action potentials. The continuous electrical activity was abolished by diazepam. X-linkage could not be excluded because there was no male-to-male transmission. <a href="#21" class="mim-tip-reference" title="Sander, J. E., Layzer, R. B., Goldsobel, A. B. <strong>Congenital stiff-man syndrome.</strong> Ann. Neurol. 8: 195-197, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7425575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7425575</a>] [<a href="https://doi.org/10.1002/ana.410080212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7425575">Sander et al. (1980)</a> reported a large family with dominantly inherited congenital stiff-man syndrome. Affected infants were hypertonic at birth, but their tone became almost normal by 3 years of age. Stiffness reappeared at adolescence, often precipitated by sudden movement or cold. <a href="#21" class="mim-tip-reference" title="Sander, J. E., Layzer, R. B., Goldsobel, A. B. <strong>Congenital stiff-man syndrome.</strong> Ann. Neurol. 8: 195-197, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7425575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7425575</a>] [<a href="https://doi.org/10.1002/ana.410080212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7425575">Sander et al. (1980)</a> stated that the inherited form of the disorder is benign and that the sporadic form is more severe. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4508100+7425575" 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="#10" class="mim-tip-reference" title="Lingam, S., Wilson, J., Hart, E. W. <strong>Hereditary stiff-baby syndrome.</strong> Am. J. Dis. Child. 135: 909-911, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7293991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7293991</a>] [<a href="https://doi.org/10.1001/archpedi.1981.02130340021008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7293991">Lingam et al. (1981)</a> reported an affected family and suggested the term 'stiff-baby syndrome.' They noted that affected infants tend to look alert, frightened, and tense, and have a tendency to vomit due to hiatal hernias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7293991" 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 a family described by <a href="#13" class="mim-tip-reference" title="Morley, D. J., Weaver, D. D., Garg, B. P., Markand, O. <strong>Hyperexplexia: an inherited disorder of the startle response.</strong> Clin. Genet. 21: 388-396, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7127880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7127880</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01393.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7127880">Morley et al. (1982)</a>, affected persons showed flexor hypertonia and hypokinesia during infancy. Later and throughout life, they showed an exaggerated startle reaction with involuntary myoclonus (occasionally resulting in a fall) and marked nocturnal myoclonic jerks. <a href="#13" class="mim-tip-reference" title="Morley, D. J., Weaver, D. D., Garg, B. P., Markand, O. <strong>Hyperexplexia: an inherited disorder of the startle response.</strong> Clin. Genet. 21: 388-396, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7127880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7127880</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01393.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7127880">Morley et al. (1982)</a> noted a high frequency of congenital dislocation of the hip and of inguinal hernia. The neurologic features could be controlled with clonazepam. <a href="#11" class="mim-tip-reference" title="Markand, O. N., Garg, B. P., Weaver, D. D. <strong>Familial startle disease (hyperexplexia): electrophysiologic studies.</strong> Arch. Neurol. 41: 71-74, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6689893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6689893</a>] [<a href="https://doi.org/10.1001/archneur.1984.04050130077028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6689893">Markand et al. (1984)</a> examined 12 of 15 affected members of the family reported by <a href="#13" class="mim-tip-reference" title="Morley, D. J., Weaver, D. D., Garg, B. P., Markand, O. <strong>Hyperexplexia: an inherited disorder of the startle response.</strong> Clin. Genet. 21: 388-396, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7127880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7127880</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01393.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7127880">Morley et al. (1982)</a>. Startles were best elicited by lightly touching the patient's nose, clapping or making other noises, or suddenly jolting the patient's chair. Electrophysiologic studies found a prominent C response 60 to 75 ms after median and peroneal nerve stimulation. The authors suggested that hyperactive long-loop reflexes may be the physiologic basis for the exaggerated startle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6689893+7127880" 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="#20" class="mim-tip-reference" title="Saenz-Lope, E., Herranz-Tanarro, F. J., Masdeu, J. C., Chacon Pena, J. R. <strong>Hyperekplexia: a syndrome of pathological startle responses.</strong> Ann. Neurol. 15: 36-41, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6424556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6424556</a>] [<a href="https://doi.org/10.1002/ana.410150107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6424556">Saenz-Lope et al. (1984)</a> identified the disorder, which they referred to as 'hyperekplexia,' in 5 of 7 children (3 brothers and 2 sisters) born to unrelated parents. No other members of the family were affected. Clonazepam was ineffective, whereas valproic acid, 5-hydroxytryptophan, or piracetam markedly reduced the abnormal startle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6424556" 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="#16" class="mim-tip-reference" title="Ryan, S. G., Bick, D. P., Mackey, R. W., Naylor, S. L. <strong>Hereditary startle disease: clinical features and response to clonazepam in a large pedigree amenable to linkage analysis. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A61, 1989."None>Ryan et al. (1989)</a> identified a 5-generation kindred in which 30 of 52 persons at risk were affected with this disorder. Continuous and occasionally fatal muscular rigidity was present in infancy and electromyography showed continuous motor unit activity. An exaggerated startle response persisted throughout life; sudden, unexpected acoustic or tactile stimuli could precipitate a brief attack of intense rigidity with falling. Umbilical and inguinal hernias, presumably due to increased intraabdominal pressure, were common, as was nocturnal myoclonus. Dramatic improvement of symptoms followed treatment with clonazepam. Based on EMG findings, <a href="#16" class="mim-tip-reference" title="Ryan, S. G., Bick, D. P., Mackey, R. W., Naylor, S. L. <strong>Hereditary startle disease: clinical features and response to clonazepam in a large pedigree amenable to linkage analysis. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A61, 1989."None>Ryan et al. (1989)</a> concluded that startle disease and hereditary stiff-man syndrome are identical disorders.</p><p><a href="#6" class="mim-tip-reference" title="Hayashi, T., Tachibana, H., Kajii, T. <strong>Hyperekplexia: pedigree studies in two families.</strong> Am. J. Med. Genet. 40: 138-143, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897565</a>] [<a href="https://doi.org/10.1002/ajmg.1320400203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1897565">Hayashi et al. (1991)</a> reported 2 unrelated Japanese families with hyperekplexia. The 9 affected members had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling episodes, nocturnal myoclonus, an easily elicited head retraction reflex, hip dislocation, and umbilical hernia. Treatment with clonazepam was effective in infants and children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1897565" 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="Dubowitz, L. M. S., Bouza, H., Hird, M. F., Jaeken, J. <strong>Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.</strong> Lancet 340: 80-81, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352015</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90398-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1352015">Dubowitz et al. (1992)</a> reported the case of a newborn infant with classic features of startle disease in whom the cerebrospinal fluid concentrations of gamma-aminobutyric acid (GABA) were substantially lower than normal during the first weeks of life. She improved greatly on clonazepam treatment. <a href="#3" class="mim-tip-reference" title="Dubowitz, L. M. S., Bouza, H., Hird, M. F., Jaeken, J. <strong>Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.</strong> Lancet 340: 80-81, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352015</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90398-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1352015">Dubowitz et al. (1992)</a> suggested that the signs of this disorder may be due to a genetic defect or to delayed maturation resulting in low CSF GABA. The disorder may be confused with seizure disorder, but it does not have concomitant discharges on EEG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1352015" 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="#12" class="mim-tip-reference" title="Milani, N., Dalpra, L., del Prete, A., Zanini, R., Larizza, L. <strong>A novel mutation (gln266-to-his) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (Letter)</strong> Am. J. Hum. Genet. 58: 420-422, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571969</a>]" pmid="8571969">Milani et al. (1996)</a> demonstrated a variable combination of clinical signs of hereditary hyperekplexia in an Italian family. The 1-year-old proband had excessive startle response, muscular hypertonia, and a continuing flexion state, whereas only startle response during early infancy was found in the mother, aged 30 years. The proband's second cousin died at the age of 45 days from apnea following myoclonic fits, and her father displayed hypertonia and muscle stiffening. No history of infantile hypertonia was recorded in the grandparents of either the proband or the affected second cousin. In affected members of this family, <a href="#12" class="mim-tip-reference" title="Milani, N., Dalpra, L., del Prete, A., Zanini, R., Larizza, L. <strong>A novel mutation (gln266-to-his) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (Letter)</strong> Am. J. Hum. Genet. 58: 420-422, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571969</a>]" pmid="8571969">Milani et al. (1996)</a> identified a mutation in the GLRA1 gene (<a href="/entry/138491#0005">138491.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8571969" 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>Hyperekplexia-1 shows both autosomal dominant (<a href="#22" class="mim-tip-reference" title="Shiang, R., Ryan, S. G., Zhu, Y.-Z., Hahn, A. F., O'Connell, P., Wasmuth, J. J. <strong>Point mutations in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.</strong> Nature Genet. 5: 351-357, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298642</a>] [<a href="https://doi.org/10.1038/ng1293-351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298642">Shiang et al., 1993</a>) and autosomal recessive inheritance (<a href="#15" class="mim-tip-reference" title="Rees, M. I., Andrew, M., Jawad, S., Owen, M. J. <strong>Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor.</strong> Hum. Molec. Genet. 3: 2175-2179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881416</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881416">Rees et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7881416+8298642" 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="#19" class="mim-tip-reference" title="Ryan, S. G., Sherman, S. L., Terry, J. C., Sparkes, R. S., Torres, M. C., Mackey, R. W. <strong>Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.</strong> Ann. Neurol. 31: 663-668, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355335</a>] [<a href="https://doi.org/10.1002/ana.410310615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1355335">Ryan et al. (1992)</a> studied a 5-generation family with startle disease and successfully treated 16 affected members, including 1 neonate, with clonazepam. Linkage analysis demonstrated tight linkage of the disorder with CSF1R (<a href="/entry/164770">164770</a>), which is located at 5q33.2-q33.3 (maximum lod of 7.10 at 3% recombination). The authors suggested that neurotransmitter receptors encoded by genes in the subtelomeric region of 5q are likely candidates for the site of the mutation in this disorder. Clonazepam acts through gamma-aminobutyric acid type A receptors; the GABRA1 gene (<a href="/entry/137160">137160</a>) is located at 5q34-q35 and the GABRG2 (<a href="/entry/137164">137164</a>) gene at 5q31.1-q33.1. In a later study, Ryan et al. (<a href="#17" class="mim-tip-reference" title="Ryan, S. G., Dixon, M. J., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J. C., Shiang, R., Wasmuth, J. J., O'Connell, P. <strong>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.</strong> Am. J. Hum. Genet. 51: 1334-1343, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1334371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1334371</a>]" pmid="1334371">1992</a>, <a href="#18" class="mim-tip-reference" title="Ryan, S. G., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J., Dixon, M. J., Shiang, R., Wasmuth, J. J., O'Connell, P. <strong>Hyperekplexia: evidence for locus homogeneity on chromosome 5q, identification of tightly flanking markers, and exclusion of candidate genes GABRA1 and GABRG2. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A200, 1992."None>1992</a>) performed linkage analysis in the original family and 3 additional affected pedigrees with 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid map of the region. The results provided strong evidence for genetic locus homogeneity and assigned the hyperekplexia locus to a 5.9-cM interval defined by CSF1R and D5S379, which are separated by a radiation hybrid (RH) map distance of 74 centirays (approximately 2.2-3.7 Mb). RH mapping eliminated the candidate genes GABRA1 and GABRG2 by showing that they are telomeric to the target region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1355335+1334371" 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 4 families with autosomal dominant hyperekplexia, 2 of whom were reported by <a href="#17" class="mim-tip-reference" title="Ryan, S. G., Dixon, M. J., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J. C., Shiang, R., Wasmuth, J. J., O'Connell, P. <strong>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.</strong> Am. J. Hum. Genet. 51: 1334-1343, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1334371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1334371</a>]" pmid="1334371">Ryan et al. (1992)</a>, <a href="#22" class="mim-tip-reference" title="Shiang, R., Ryan, S. G., Zhu, Y.-Z., Hahn, A. F., O'Connell, P., Wasmuth, J. J. <strong>Point mutations in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.</strong> Nature Genet. 5: 351-357, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298642</a>] [<a href="https://doi.org/10.1038/ng1293-351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298642">Shiang et al. (1993)</a> identified 2 heterozygous mutations in the GLRA1 gene (<a href="/entry/138491#0001">138491.0001</a>-<a href="/entry/138491#0002">138491.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8298642+1334371" 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 a sporadic patient with startle disease, the offspring of a consanguineous marriage, <a href="#15" class="mim-tip-reference" title="Rees, M. I., Andrew, M., Jawad, S., Owen, M. J. <strong>Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor.</strong> Hum. Molec. Genet. 3: 2175-2179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881416</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881416">Rees et al. (1994)</a> identified a homozygous mutation in the GLRA1 gene (<a href="/entry/138491#0003">138491.0003</a>). The phenotype was indistinguishable from that of dominant inheritance of GLRA1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881416" 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 2 consanguineous Turkish Kurd families with hyperekplexia, <a href="#23" class="mim-tip-reference" title="Siren, A., Legros, B., Chahine, L., Misson, J.-P., Pandolfo, M. <strong>Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.</strong> Neurology 67: 137-139, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832093</a>] [<a href="https://doi.org/10.1212/01.wnl.0000223347.73493.af" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16832093">Siren et al. (2006)</a> identified a large homozygous deletion, which included exons 1 to 7 of the GLRA1 gene (<a href="/entry/138491#0013">138491.0013</a>). The deletion breakpoints were determined to be the same as those reported by <a href="#5" class="mim-tip-reference" title="Gilbert, S. L., Ozdag, F., Ulas, U. H., Dobyns, W. B., Lahn, B. T. <strong>Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.</strong> Molec. Diag. 8: 151-155, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15771552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15771552</a>] [<a href="https://doi.org/10.1007/BF03260058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15771552">Gilbert et al. (2004)</a> in another affected Turkish Kurd family. <a href="#23" class="mim-tip-reference" title="Siren, A., Legros, B., Chahine, L., Misson, J.-P., Pandolfo, M. <strong>Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.</strong> Neurology 67: 137-139, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832093</a>] [<a href="https://doi.org/10.1212/01.wnl.0000223347.73493.af" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16832093">Siren et al. (2006)</a> suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15771552+16832093" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible role of variation in the gephyrin gene (GPHN; <a href="/entry/603930">603930</a>) in hyperekplexia, see <a href="/entry/603930#0002">603930.0002</a>.</p>
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<p><a href="#4" class="mim-tip-reference" title="Feng, G., Tintrup, H., Kirsch, J., Nichol, M. C., Kuhse, J., Betz, H., Sanes, J. R. <strong>Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.</strong> Science 282: 1321-1324, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9812897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9812897</a>] [<a href="https://doi.org/10.1126/science.282.5392.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9812897">Feng et al. (1998)</a> found that mice mutant for gephyrin (<a href="/entry/603930">603930</a>) exhibited a phenotype similar to that of humans with hyperekplexia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9812897" 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>Mice homozygous for the 'spastic' (spa) mutation display a complex motor disorder with phenotypic features of hyperekplexia. In spa mice, <a href="#14" class="mim-tip-reference" title="Mulhardt, C., Fischer, M., Gass, P., Simon-Chazottes, D., Guenet, J.-L., Kuhse, J., Betz, H., Becker, C.-M. <strong>The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.</strong> Neuron 13: 1003-1015, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7946325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7946325</a>] [<a href="https://doi.org/10.1016/0896-6273(94)90265-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7946325">Mulhardt et al. (1994)</a> found aberrant splicing of the Glrb gene resulting in a truncated mRNA. The mouse mutant phenotype 'spasmodic' (spd), caused by mutation in the Glra1 gene, is inherited as a recessive and is phenotypically similar to hyperekplexia, including an altered startle response (<a href="#2" class="mim-tip-reference" title="Buckwalter, M. S., Cook, S. A., Davisson, M. T., White, W. F., Camper, S. A. <strong>A frameshift mutation in the mouse alpha-1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.</strong> Hum. Molec. Genet. 3: 2025-2030, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874121</a>] [<a href="https://doi.org/10.1093/hmg/3.11.2025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874121">Buckwalter et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7874121+7946325" 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="#Andermann1980" class="mim-tip-reference" title="Andermann, F., Keene, D. L., Andermann, E., Quesney, L. F. <strong>Startle disease or hyperekplexia: further delineation of the syndrome.</strong> Brain 103: 985-997, 1980.">Andermann et al. (1980)</a>; <a href="#Stevens1965" class="mim-tip-reference" title="Stevens, H. <strong>'Jumping Frenchmen of Maine'.</strong> Arch. Neurol. 12: 311-314, 1965.">Stevens (1965)</a>
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Andermann, F., Keene, D. L., Andermann, E., Quesney, L. F.
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<strong>Startle disease or hyperekplexia: further delineation of the syndrome.</strong>
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Brain 103: 985-997, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6777025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6777025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6777025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Buckwalter, M. S., Cook, S. A., Davisson, M. T., White, W. F., Camper, S. A.
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<strong>A frameshift mutation in the mouse alpha-1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.</strong>
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Hum. Molec. Genet. 3: 2025-2030, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dubowitz, L. M. S., Bouza, H., Hird, M. F., Jaeken, J.
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<strong>Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.</strong>
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Lancet 340: 80-81, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1352015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Feng, G., Tintrup, H., Kirsch, J., Nichol, M. C., Kuhse, J., Betz, H., Sanes, J. R.
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<strong>Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.</strong>
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Science 282: 1321-1324, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9812897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9812897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9812897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.</strong>
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Molec. Diag. 8: 151-155, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15771552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15771552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15771552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF03260058" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Hayashi1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayashi, T., Tachibana, H., Kajii, T.
|
|
<strong>Hyperekplexia: pedigree studies in two families.</strong>
|
|
Am. J. Med. Genet. 40: 138-143, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1897565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320400203" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Kirstein1958" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kirstein, L., Silfverskiold, B. P.
|
|
<strong>A family with emotionally precipitated 'drop seizures'.</strong>
|
|
Acta Psychiat. Neurol. Scand. 33: 471-476, 1958.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13594585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13594585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13594585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1600-0447.1958.tb03533.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Klein1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Klein, R., Haddow, J. E., DeLuca, C.
|
|
<strong>Familial congenital disorder resembling stiff-man syndrome.</strong>
|
|
Am. J. Dis. Child. 124: 730-731, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4508100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4508100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4508100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archpedi.1972.02110170108018" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Kok1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kok, O., Bruyn, G. W.
|
|
<strong>An unidentified hereditary disease. (Letter)</strong>
|
|
Lancet 279: 1359 only, 1962. Note: Originally Volume I.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Lingam1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lingam, S., Wilson, J., Hart, E. W.
|
|
<strong>Hereditary stiff-baby syndrome.</strong>
|
|
Am. J. Dis. Child. 135: 909-911, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7293991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7293991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7293991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archpedi.1981.02130340021008" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Markand1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Markand, O. N., Garg, B. P., Weaver, D. D.
|
|
<strong>Familial startle disease (hyperexplexia): electrophysiologic studies.</strong>
|
|
Arch. Neurol. 41: 71-74, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6689893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6689893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6689893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1984.04050130077028" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Milani1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Milani, N., Dalpra, L., del Prete, A., Zanini, R., Larizza, L.
|
|
<strong>A novel mutation (gln266-to-his) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (Letter)</strong>
|
|
Am. J. Hum. Genet. 58: 420-422, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8571969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Morley1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morley, D. J., Weaver, D. D., Garg, B. P., Markand, O.
|
|
<strong>Hyperexplexia: an inherited disorder of the startle response.</strong>
|
|
Clin. Genet. 21: 388-396, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7127880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7127880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7127880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01393.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Mulhardt1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mulhardt, C., Fischer, M., Gass, P., Simon-Chazottes, D., Guenet, J.-L., Kuhse, J., Betz, H., Becker, C.-M.
|
|
<strong>The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.</strong>
|
|
Neuron 13: 1003-1015, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7946325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7946325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7946325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0896-6273(94)90265-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Rees1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rees, M. I., Andrew, M., Jawad, S., Owen, M. J.
|
|
<strong>Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor.</strong>
|
|
Hum. Molec. Genet. 3: 2175-2179, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/3.12.2175" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Ryan1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ryan, S. G., Bick, D. P., Mackey, R. W., Naylor, S. L.
|
|
<strong>Hereditary startle disease: clinical features and response to clonazepam in a large pedigree amenable to linkage analysis. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A61, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Ryan1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ryan, S. G., Dixon, M. J., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J. C., Shiang, R., Wasmuth, J. J., O'Connell, P.
|
|
<strong>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.</strong>
|
|
Am. J. Hum. Genet. 51: 1334-1343, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1334371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1334371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1334371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Ryan1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ryan, S. G., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J., Dixon, M. J., Shiang, R., Wasmuth, J. J., O'Connell, P.
|
|
<strong>Hyperekplexia: evidence for locus homogeneity on chromosome 5q, identification of tightly flanking markers, and exclusion of candidate genes GABRA1 and GABRG2. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A200, 1992.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Ryan1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ryan, S. G., Sherman, S. L., Terry, J. C., Sparkes, R. S., Torres, M. C., Mackey, R. W.
|
|
<strong>Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.</strong>
|
|
Ann. Neurol. 31: 663-668, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410310615" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Saenz-Lope1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saenz-Lope, E., Herranz-Tanarro, F. J., Masdeu, J. C., Chacon Pena, J. R.
|
|
<strong>Hyperekplexia: a syndrome of pathological startle responses.</strong>
|
|
Ann. Neurol. 15: 36-41, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6424556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6424556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6424556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410150107" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Sander1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sander, J. E., Layzer, R. B., Goldsobel, A. B.
|
|
<strong>Congenital stiff-man syndrome.</strong>
|
|
Ann. Neurol. 8: 195-197, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7425575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7425575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7425575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410080212" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Shiang1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shiang, R., Ryan, S. G., Zhu, Y.-Z., Hahn, A. F., O'Connell, P., Wasmuth, J. J.
|
|
<strong>Point mutations in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.</strong>
|
|
Nature Genet. 5: 351-357, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1293-351" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Siren2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Siren, A., Legros, B., Chahine, L., Misson, J.-P., Pandolfo, M.
|
|
<strong>Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.</strong>
|
|
Neurology 67: 137-139, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16832093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000223347.73493.af" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Stevens1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stevens, H.
|
|
<strong>'Jumping Frenchmen of Maine'.</strong>
|
|
Arch. Neurol. 12: 311-314, 1965.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14247390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14247390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14247390" 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/10.1001/archneur.1965.00460270087011" target="_blank">Full Text</a>]
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<a id="Suhren1966" class="mim-anchor"></a>
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<p class="mim-text-font">
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Suhren, O., Bruyn, G. W., Tuynman, J. A.
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<strong>Hyperexplexia, a hereditary startle syndrome.</strong>
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J. Neurol. Sci. 3: 577-605, 1966.
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Went, L. N.
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<strong>Personal Communication.</strong>
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Leiden, The Netherlands 1974.
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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 : 7/25/2007
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Victor A. McKusick - updated : 6/30/2006<br>Cassandra L. Kniffin - reorganized : 8/17/2004<br>George E. Tiller - updated : 10/30/2002<br>Rebekah S. Rasooly - updated : 6/22/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 04/27/2021
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alopez : 04/26/2021<br>carol : 12/07/2020<br>carol : 12/04/2020<br>ckniffin : 09/25/2019<br>ckniffin : 09/25/2019<br>carol : 06/08/2018<br>ckniffin : 06/07/2018<br>carol : 04/26/2017<br>carol : 06/23/2016<br>carol : 1/8/2013<br>carol : 5/9/2012<br>ckniffin : 5/8/2012<br>terry : 2/3/2009<br>wwang : 8/2/2007<br>ckniffin : 7/25/2007<br>terry : 8/25/2006<br>alopez : 7/5/2006<br>terry : 6/30/2006<br>terry : 2/22/2005<br>ckniffin : 8/18/2004<br>carol : 8/17/2004<br>ckniffin : 7/30/2004<br>cwells : 10/30/2002<br>joanna : 11/1/1999<br>alopez : 6/22/1999<br>terry : 5/3/1996<br>terry : 4/29/1996<br>mimadm : 11/5/1994<br>pfoster : 4/22/1994<br>warfield : 4/12/1994<br>carol : 12/13/1993<br>carol : 10/27/1993<br>carol : 1/20/1993
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<span class="mim-font">
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<strong>#</strong> 149400
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HYPEREKPLEXIA 1; HKPX1
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STARTLE DISEASE, FAMILIAL<br />
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STARTLE REACTION, EXAGGERATED<br />
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EXAGGERATED STARTLE REACTION<br />
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STHE<br />
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STIFF-BABY SYNDROME<br />
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STIFF-MAN SYNDROME, CONGENITAL<br />
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STIFF-PERSON SYNDROME, CONGENITAL<br />
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KOK DISEASE
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<strong>SNOMEDCT:</strong> 724351008;
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<strong>ORPHA:</strong> 3197;
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<strong>DO:</strong> 0060696;
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<strong>Phenotype-Gene 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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5q33.1
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Hyperekplexia 1
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149400
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Autosomal dominant; Autosomal recessive
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<span class="mim-font">
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3
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GLRA1
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138491
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hyperekplexia-1 (HKPX1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene (138491) on chromosome 5q33.</p>
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<strong>Description</strong>
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<p>Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992). </p><p><strong><em>Genetic Heterogeneity of Hyperekplexia</em></strong></p><p>
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See also HKPX2 (614619), caused by mutation in the GLRB gene (138492) on chromosome 4q31; HKPX3 (614618), caused by mutation in the GLYT2 gene (SLC6A5; 604159) on chromosome 11p15; and HKPX4 (618011), caused by mutation in the ATAD1 gene (614452) on chromosome 10q23.</p><p>Hyperekplexia can also occur in developmental and epileptic encephalopathy-8 (DEE8; 300607), caused by mutation in the ARHGEF9 gene (300429).</p><p>See also sporadic stiff-man syndrome (184850) and the 'Jumping Frenchmen of Maine' (244100).</p>
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<strong>Clinical Features</strong>
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<p>Ryan et al. (1992) suggested that this disorder was first described by Kirstein and Silfverskiold (1958), who reported a 'family with emotionally precipitated drop seizures.' </p><p>Suhren et al. (1966) described a family in which 25 persons spanning 5 generations with numerous instances of male-to-male transmission had transient congenital hypertonia that disappeared with sleep; hypertonia diminished during the first year of life. Later in life, affected individuals showed greatly exaggerated startle responses, which were sometimes associated with falling, markedly hyperactive brainstem reflexes (e.g., head retraction, palmomental and snout reflexes), and a momentary generalized jerking on falling asleep. The authors suggested an uninhibited nociceptive reflex pattern as a result of a defect in maturation. Barbiturate medication resulted in improvement. See also Kok and Bruyn (1962) (Kok and Suhren are the same person Went, 1974).</p><p>Klein et al. (1972) reported a family in which 10 persons spanning 3 generations had a congenital form of stiff-man syndrome. Affected members had attacks of stiffness precipitated by surprise or minor physical contact and characterized by difficulty in making sudden movements; signs of myotonia or myokymia were not present. During the episodes, EMG showed continuous activity at rest with normal action potentials. The continuous electrical activity was abolished by diazepam. X-linkage could not be excluded because there was no male-to-male transmission. Sander et al. (1980) reported a large family with dominantly inherited congenital stiff-man syndrome. Affected infants were hypertonic at birth, but their tone became almost normal by 3 years of age. Stiffness reappeared at adolescence, often precipitated by sudden movement or cold. Sander et al. (1980) stated that the inherited form of the disorder is benign and that the sporadic form is more severe. </p><p>Lingam et al. (1981) reported an affected family and suggested the term 'stiff-baby syndrome.' They noted that affected infants tend to look alert, frightened, and tense, and have a tendency to vomit due to hiatal hernias. </p><p>In a family described by Morley et al. (1982), affected persons showed flexor hypertonia and hypokinesia during infancy. Later and throughout life, they showed an exaggerated startle reaction with involuntary myoclonus (occasionally resulting in a fall) and marked nocturnal myoclonic jerks. Morley et al. (1982) noted a high frequency of congenital dislocation of the hip and of inguinal hernia. The neurologic features could be controlled with clonazepam. Markand et al. (1984) examined 12 of 15 affected members of the family reported by Morley et al. (1982). Startles were best elicited by lightly touching the patient's nose, clapping or making other noises, or suddenly jolting the patient's chair. Electrophysiologic studies found a prominent C response 60 to 75 ms after median and peroneal nerve stimulation. The authors suggested that hyperactive long-loop reflexes may be the physiologic basis for the exaggerated startle. </p><p>Saenz-Lope et al. (1984) identified the disorder, which they referred to as 'hyperekplexia,' in 5 of 7 children (3 brothers and 2 sisters) born to unrelated parents. No other members of the family were affected. Clonazepam was ineffective, whereas valproic acid, 5-hydroxytryptophan, or piracetam markedly reduced the abnormal startle. </p><p>Ryan et al. (1989) identified a 5-generation kindred in which 30 of 52 persons at risk were affected with this disorder. Continuous and occasionally fatal muscular rigidity was present in infancy and electromyography showed continuous motor unit activity. An exaggerated startle response persisted throughout life; sudden, unexpected acoustic or tactile stimuli could precipitate a brief attack of intense rigidity with falling. Umbilical and inguinal hernias, presumably due to increased intraabdominal pressure, were common, as was nocturnal myoclonus. Dramatic improvement of symptoms followed treatment with clonazepam. Based on EMG findings, Ryan et al. (1989) concluded that startle disease and hereditary stiff-man syndrome are identical disorders.</p><p>Hayashi et al. (1991) reported 2 unrelated Japanese families with hyperekplexia. The 9 affected members had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling episodes, nocturnal myoclonus, an easily elicited head retraction reflex, hip dislocation, and umbilical hernia. Treatment with clonazepam was effective in infants and children. </p><p>Dubowitz et al. (1992) reported the case of a newborn infant with classic features of startle disease in whom the cerebrospinal fluid concentrations of gamma-aminobutyric acid (GABA) were substantially lower than normal during the first weeks of life. She improved greatly on clonazepam treatment. Dubowitz et al. (1992) suggested that the signs of this disorder may be due to a genetic defect or to delayed maturation resulting in low CSF GABA. The disorder may be confused with seizure disorder, but it does not have concomitant discharges on EEG. </p><p>Milani et al. (1996) demonstrated a variable combination of clinical signs of hereditary hyperekplexia in an Italian family. The 1-year-old proband had excessive startle response, muscular hypertonia, and a continuing flexion state, whereas only startle response during early infancy was found in the mother, aged 30 years. The proband's second cousin died at the age of 45 days from apnea following myoclonic fits, and her father displayed hypertonia and muscle stiffening. No history of infantile hypertonia was recorded in the grandparents of either the proband or the affected second cousin. In affected members of this family, Milani et al. (1996) identified a mutation in the GLRA1 gene (138491.0005). </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hyperekplexia-1 shows both autosomal dominant (Shiang et al., 1993) and autosomal recessive inheritance (Rees et al., 1994). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Ryan et al. (1992) studied a 5-generation family with startle disease and successfully treated 16 affected members, including 1 neonate, with clonazepam. Linkage analysis demonstrated tight linkage of the disorder with CSF1R (164770), which is located at 5q33.2-q33.3 (maximum lod of 7.10 at 3% recombination). The authors suggested that neurotransmitter receptors encoded by genes in the subtelomeric region of 5q are likely candidates for the site of the mutation in this disorder. Clonazepam acts through gamma-aminobutyric acid type A receptors; the GABRA1 gene (137160) is located at 5q34-q35 and the GABRG2 (137164) gene at 5q31.1-q33.1. In a later study, Ryan et al. (1992, 1992) performed linkage analysis in the original family and 3 additional affected pedigrees with 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid map of the region. The results provided strong evidence for genetic locus homogeneity and assigned the hyperekplexia locus to a 5.9-cM interval defined by CSF1R and D5S379, which are separated by a radiation hybrid (RH) map distance of 74 centirays (approximately 2.2-3.7 Mb). RH mapping eliminated the candidate genes GABRA1 and GABRG2 by showing that they are telomeric to the target region. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In affected members of 4 families with autosomal dominant hyperekplexia, 2 of whom were reported by Ryan et al. (1992), Shiang et al. (1993) identified 2 heterozygous mutations in the GLRA1 gene (138491.0001-138491.0002). </p><p>In a sporadic patient with startle disease, the offspring of a consanguineous marriage, Rees et al. (1994) identified a homozygous mutation in the GLRA1 gene (138491.0003). The phenotype was indistinguishable from that of dominant inheritance of GLRA1 mutations. </p><p>In affected members of 2 consanguineous Turkish Kurd families with hyperekplexia, Siren et al. (2006) identified a large homozygous deletion, which included exons 1 to 7 of the GLRA1 gene (138491.0013). The deletion breakpoints were determined to be the same as those reported by Gilbert et al. (2004) in another affected Turkish Kurd family. Siren et al. (2006) suggested a founder effect. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible role of variation in the gephyrin gene (GPHN; 603930) in hyperekplexia, see 603930.0002.</p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</h4>
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</div>
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<p>Feng et al. (1998) found that mice mutant for gephyrin (603930) exhibited a phenotype similar to that of humans with hyperekplexia. </p><p>Mice homozygous for the 'spastic' (spa) mutation display a complex motor disorder with phenotypic features of hyperekplexia. In spa mice, Mulhardt et al. (1994) found aberrant splicing of the Glrb gene resulting in a truncated mRNA. The mouse mutant phenotype 'spasmodic' (spd), caused by mutation in the Glra1 gene, is inherited as a recessive and is phenotypically similar to hyperekplexia, including an altered startle response (Buckwalter et al., 1994). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Andermann et al. (1980); Stevens (1965)
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</span>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Andermann, F., Keene, D. L., Andermann, E., Quesney, L. F.
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<strong>Startle disease or hyperekplexia: further delineation of the syndrome.</strong>
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Brain 103: 985-997, 1980.
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[PubMed: 6777025]
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[Full Text: https://doi.org/10.1093/brain/103.4.985]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Buckwalter, M. S., Cook, S. A., Davisson, M. T., White, W. F., Camper, S. A.
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<strong>A frameshift mutation in the mouse alpha-1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.</strong>
|
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Hum. Molec. Genet. 3: 2025-2030, 1994.
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|
|
|
[PubMed: 7874121]
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|
|
|
|
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[Full Text: https://doi.org/10.1093/hmg/3.11.2025]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dubowitz, L. M. S., Bouza, H., Hird, M. F., Jaeken, J.
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<strong>Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.</strong>
|
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Lancet 340: 80-81, 1992.
|
|
|
|
|
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[PubMed: 1352015]
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[Full Text: https://doi.org/10.1016/0140-6736(92)90398-m]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Feng, G., Tintrup, H., Kirsch, J., Nichol, M. C., Kuhse, J., Betz, H., Sanes, J. R.
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<strong>Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.</strong>
|
|
Science 282: 1321-1324, 1998.
|
|
|
|
|
|
[PubMed: 9812897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.282.5392.1321]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Gilbert, S. L., Ozdag, F., Ulas, U. H., Dobyns, W. B., Lahn, B. T.
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<strong>Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.</strong>
|
|
Molec. Diag. 8: 151-155, 2004.
|
|
|
|
|
|
[PubMed: 15771552]
|
|
|
|
|
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[Full Text: https://doi.org/10.1007/BF03260058]
|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Hayashi, T., Tachibana, H., Kajii, T.
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<strong>Hyperekplexia: pedigree studies in two families.</strong>
|
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Am. J. Med. Genet. 40: 138-143, 1991.
|
|
|
|
|
|
[PubMed: 1897565]
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|
|
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[Full Text: https://doi.org/10.1002/ajmg.1320400203]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kirstein, L., Silfverskiold, B. P.
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<strong>A family with emotionally precipitated 'drop seizures'.</strong>
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Acta Psychiat. Neurol. Scand. 33: 471-476, 1958.
|
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[PubMed: 13594585]
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[Full Text: https://doi.org/10.1111/j.1600-0447.1958.tb03533.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Klein, R., Haddow, J. E., DeLuca, C.
|
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<strong>Familial congenital disorder resembling stiff-man syndrome.</strong>
|
|
Am. J. Dis. Child. 124: 730-731, 1972.
|
|
|
|
|
|
[PubMed: 4508100]
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[Full Text: https://doi.org/10.1001/archpedi.1972.02110170108018]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kok, O., Bruyn, G. W.
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<strong>An unidentified hereditary disease. (Letter)</strong>
|
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Lancet 279: 1359 only, 1962. Note: Originally Volume I.
|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lingam, S., Wilson, J., Hart, E. W.
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<strong>Hereditary stiff-baby syndrome.</strong>
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Am. J. Dis. Child. 135: 909-911, 1981.
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[PubMed: 7293991]
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[Full Text: https://doi.org/10.1001/archpedi.1981.02130340021008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Markand, O. N., Garg, B. P., Weaver, D. D.
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<strong>Familial startle disease (hyperexplexia): electrophysiologic studies.</strong>
|
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Arch. Neurol. 41: 71-74, 1984.
|
|
|
|
|
|
[PubMed: 6689893]
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[Full Text: https://doi.org/10.1001/archneur.1984.04050130077028]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
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Milani, N., Dalpra, L., del Prete, A., Zanini, R., Larizza, L.
|
|
<strong>A novel mutation (gln266-to-his) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (Letter)</strong>
|
|
Am. J. Hum. Genet. 58: 420-422, 1996.
|
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|
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[PubMed: 8571969]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
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Morley, D. J., Weaver, D. D., Garg, B. P., Markand, O.
|
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<strong>Hyperexplexia: an inherited disorder of the startle response.</strong>
|
|
Clin. Genet. 21: 388-396, 1982.
|
|
|
|
|
|
[PubMed: 7127880]
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|
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01393.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mulhardt, C., Fischer, M., Gass, P., Simon-Chazottes, D., Guenet, J.-L., Kuhse, J., Betz, H., Becker, C.-M.
|
|
<strong>The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.</strong>
|
|
Neuron 13: 1003-1015, 1994.
|
|
|
|
|
|
[PubMed: 7946325]
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|
[Full Text: https://doi.org/10.1016/0896-6273(94)90265-8]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
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Rees, M. I., Andrew, M., Jawad, S., Owen, M. J.
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|
<strong>Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor.</strong>
|
|
Hum. Molec. Genet. 3: 2175-2179, 1994.
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[PubMed: 7881416]
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[Full Text: https://doi.org/10.1093/hmg/3.12.2175]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ryan, S. G., Bick, D. P., Mackey, R. W., Naylor, S. L.
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<strong>Hereditary startle disease: clinical features and response to clonazepam in a large pedigree amenable to linkage analysis. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A61, 1989.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ryan, S. G., Dixon, M. J., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J. C., Shiang, R., Wasmuth, J. J., O'Connell, P.
|
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<strong>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.</strong>
|
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Am. J. Hum. Genet. 51: 1334-1343, 1992.
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[PubMed: 1334371]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ryan, S. G., Nigro, M. A., Kelts, K. A., Markand, O. N., Terry, J., Dixon, M. J., Shiang, R., Wasmuth, J. J., O'Connell, P.
|
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<strong>Hyperekplexia: evidence for locus homogeneity on chromosome 5q, identification of tightly flanking markers, and exclusion of candidate genes GABRA1 and GABRG2. (Abstract)</strong>
|
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Am. J. Hum. Genet. 51 (suppl.): A200, 1992.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ryan, S. G., Sherman, S. L., Terry, J. C., Sparkes, R. S., Torres, M. C., Mackey, R. W.
|
|
<strong>Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.</strong>
|
|
Ann. Neurol. 31: 663-668, 1992.
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[PubMed: 1355335]
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[Full Text: https://doi.org/10.1002/ana.410310615]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Saenz-Lope, E., Herranz-Tanarro, F. J., Masdeu, J. C., Chacon Pena, J. R.
|
|
<strong>Hyperekplexia: a syndrome of pathological startle responses.</strong>
|
|
Ann. Neurol. 15: 36-41, 1984.
|
|
|
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|
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[PubMed: 6424556]
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[Full Text: https://doi.org/10.1002/ana.410150107]
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</p>
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</li>
|
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<li>
|
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<p class="mim-text-font">
|
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Sander, J. E., Layzer, R. B., Goldsobel, A. B.
|
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<strong>Congenital stiff-man syndrome.</strong>
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Ann. Neurol. 8: 195-197, 1980.
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|
|
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[PubMed: 7425575]
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[Full Text: https://doi.org/10.1002/ana.410080212]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shiang, R., Ryan, S. G., Zhu, Y.-Z., Hahn, A. F., O'Connell, P., Wasmuth, J. J.
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<strong>Point mutations in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.</strong>
|
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Nature Genet. 5: 351-357, 1993.
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[PubMed: 8298642]
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[Full Text: https://doi.org/10.1038/ng1293-351]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Siren, A., Legros, B., Chahine, L., Misson, J.-P., Pandolfo, M.
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<strong>Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.</strong>
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Neurology 67: 137-139, 2006.
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[PubMed: 16832093]
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[Full Text: https://doi.org/10.1212/01.wnl.0000223347.73493.af]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Stevens, H.
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<strong>'Jumping Frenchmen of Maine'.</strong>
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Arch. Neurol. 12: 311-314, 1965.
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[PubMed: 14247390]
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[Full Text: https://doi.org/10.1001/archneur.1965.00460270087011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Suhren, O., Bruyn, G. W., Tuynman, J. A.
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<strong>Hyperexplexia, a hereditary startle syndrome.</strong>
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J. Neurol. Sci. 3: 577-605, 1966.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Went, L. N.
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<strong>Personal Communication.</strong>
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Leiden, The Netherlands 1974.
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/25/2007<br>Victor A. McKusick - updated : 6/30/2006<br>Cassandra L. Kniffin - reorganized : 8/17/2004<br>George E. Tiller - updated : 10/30/2002<br>Rebekah S. Rasooly - updated : 6/22/1999
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 04/27/2021<br>alopez : 04/26/2021<br>carol : 12/07/2020<br>carol : 12/04/2020<br>ckniffin : 09/25/2019<br>ckniffin : 09/25/2019<br>carol : 06/08/2018<br>ckniffin : 06/07/2018<br>carol : 04/26/2017<br>carol : 06/23/2016<br>carol : 1/8/2013<br>carol : 5/9/2012<br>ckniffin : 5/8/2012<br>terry : 2/3/2009<br>wwang : 8/2/2007<br>ckniffin : 7/25/2007<br>terry : 8/25/2006<br>alopez : 7/5/2006<br>terry : 6/30/2006<br>terry : 2/22/2005<br>ckniffin : 8/18/2004<br>carol : 8/17/2004<br>ckniffin : 7/30/2004<br>cwells : 10/30/2002<br>joanna : 11/1/1999<br>alopez : 6/22/1999<br>terry : 5/3/1996<br>terry : 4/29/1996<br>mimadm : 11/5/1994<br>pfoster : 4/22/1994<br>warfield : 4/12/1994<br>carol : 12/13/1993<br>carol : 10/27/1993<br>carol : 1/20/1993
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