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Entry
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- #266100 - EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4
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- OMIM
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<p>
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<span class="h4">#266100</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/266100"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</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="#diagnosis">Diagnosis</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="#pathogenesis">Pathogenesis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=880&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/NBK1486/" 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/6116" 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://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=266100[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=3006" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070519" 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/266100" 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://wormbase.org/resources/disease/DOID:0070519" 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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<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> 734434007<br />
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<strong>ORPHA:</strong> 3006<br />
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<strong>DO:</strong> 0070519<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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266100
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4
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</span>
|
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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EPILEPSY, PYRIDOXINE-DEPENDENT; EPD<br />
|
|
PYRIDOXINE-DEPENDENT EPILEPSY; PDE<br />
|
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PYRIDOXINE DEPENDENCY WITH SEIZURES<br />
|
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AASA DEHYDROGENASE DEFICIENCY
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/5/406?start=-3&limit=10&highlight=406">
|
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5q23.2
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</a>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epilepsy, early-onset, 4, vitamin B6-dependent
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266100"> 266100 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
ALDH7A1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/107323"> 107323 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/266100" 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')">
|
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/266100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/266100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</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>
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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
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|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Respiratory distress, neonatal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179627006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179627006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4281993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4281993</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002643</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
</div>
|
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|
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</div>
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|
|
<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">
|
|
|
|
- Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Generalized tonic clonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1217136003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1217136003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0494475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494475</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002069</a>]</span><br /> -
|
|
Myoclonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208991001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208991001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4317123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317123</a>, <a href="https://bioportal.bioontology.org/search?q=C0014550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span><br /> -
|
|
Status epilepticus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230456007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230456007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038220</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002133</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Delayed psychomotor development (mild to severe) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849509</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Speech delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
|
|
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Fetal distress <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/130955003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">130955003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015930&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015930</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025116" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025116</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025116" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025116</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Movement </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abnormal intrauterine movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001557</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
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- Caused by mutation in the aldehyde dehydrogenase 7 family, member A1 gene (ALDH7A1, <a href="/entry/107323#0001">107323.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that early-onset vitamin B6-dependent epilepsy-4 (EPEO4) is caused by homozygous or compound heterozygous mutation in the ALDH7A1 gene (<a href="/entry/107323">107323</a>) on chromosome 5q23.</p>
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<p>Early-onset vitamin B6-dependent epilespy-4 (EPEO4), characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (<a href="#5" class="mim-tip-reference" title="Bennett, C. L., Huynh, H. M., Chance, P. F., Glass, I. A., Gospe, S. M., Jr. <strong>Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.</strong> Neurogenetics 6: 143-149, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16075246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16075246</a>] [<a href="https://doi.org/10.1007/s10048-005-0221-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16075246">Bennett et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16075246" 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>For a discussion of genetic heterogeneity of EPEO, see <a href="/entry/617290">617290</a>.</p>
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<p>Pyridoxine-dependent epilepsy was first described by <a href="#9" class="mim-tip-reference" title="Hunt, A. D., Jr., Stokes, J., Jr., McCrory, W. W., Stroud, H. H. <strong>Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine.</strong> Pediatrics 13: 140-145, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13133562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13133562</a>]" pmid="13133562">Hunt et al. (1954)</a>. <a href="#20" class="mim-tip-reference" title="Waldinger, C. <strong>Pyridoxine deficiency and pyridoxine dependency in infants and children.</strong> Postgrad. Med. 35: 415-422, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14131641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14131641</a>] [<a href="https://doi.org/10.1080/00325481.1964.11695089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14131641">Waldinger (1964)</a> described 3 sibs of Italian ancestry in whom pyridoxine dependency was manifest by convulsions at birth. Four previously reported sibships with more than 1 affected sib were referred to. <a href="#4" class="mim-tip-reference" title="Bejsovec, M., Kulenda, Z., Ponca, E. <strong>Familial intrauterine convulsions in pyridoxine dependency.</strong> Arch. Dis. Child. 42: 201-207, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6024470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6024470</a>] [<a href="https://doi.org/10.1136/adc.42.222.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6024470">Bejsovec et al. (1967)</a> described 3 sibs with intrauterine convulsions. The first 2 (females) died in status epilepticus. The third was shown to have pyridoxine dependency. Thus, this is one form of 'convulsive disorder, familial, with prenatal or early onset' (<a href="/entry/217200">217200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14131641+6024470+13133562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Goutieres, F., Aicardi, J. <strong>Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants.</strong> Ann. Neurol. 17: 117-120, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3977296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3977296</a>] [<a href="https://doi.org/10.1002/ana.410170203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3977296">Goutieres and Aicardi (1985)</a> reported 3 patients with atypical pyridoxine-dependent seizures. Each had either late onset of convulsions or seizure-free intervals of up to several months' duration without B6 supplementation. The findings, together with those in 9 previously reported cases, led the authors to urge a trial of pyridoxine in all cases of seizure disorders with onset before 18 months of age, regardless of type. Autosomal recessive inheritance was supported by parental consanguinity in the case of an affected female infant whose elder brother died at 8 months of age of unexplained status epilepticus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3977296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bennett, C. L., Huynh, H. M., Chance, P. F., Glass, I. A., Gospe, S. M., Jr. <strong>Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.</strong> Neurogenetics 6: 143-149, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16075246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16075246</a>] [<a href="https://doi.org/10.1007/s10048-005-0221-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16075246">Bennett et al. (2005)</a> reported 6 Caucasian North American families with pyridoxine-dependent seizures. Two of the families had been reported by <a href="#2" class="mim-tip-reference" title="Battaglioli, G., Rosen, D. R., Gospe, S. M., Jr., Martin, D. L. <strong>Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.</strong> Neurology 55: 309-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10908915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10908915</a>] [<a href="https://doi.org/10.1212/wnl.55.2.309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10908915">Battaglioli et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10908915+16075246" 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="#11" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> reported 13 patients from 8 unrelated families with pyridoxine-dependent epilepsy. Seizures usually started on the first day of life, but in 1 case were delayed until 3 weeks of age. Clonic seizures, generalized tonic seizures, and myoclonic jerks were all observed. Seizures were resistant to the usual anticonvulsant drugs in all but 1 case, but stopped completely and immediately upon treatment with pyridoxine. Plasma and cerebrospinal fluid levels of pipecolic acid were increased. Despite early and good control of seizures, all but 1 child showed developmental delay, ranging from mild to severe, with psychomotor difficulties and speech delay. Other features in the neonatal period included respiratory distress, acidosis, and abdominal distention and vomiting. The parents in 6 of the families were consanguineous; the families were of Dutch, Austrian, Bosnian, Turkish, Arab, and Asian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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="#19" class="mim-tip-reference" title="Tseng, L. A., Abdenur, J. E., Andrews, A., Aziz, V. G., Bok, L. A., Boyer, M., Buhas, D., Hartmann, H., Footitt, E. J., Gronborg, S., Janssen, M. C. H., Longo, N., Lunsing, R. J., MacKenzie, A. E., Wijburg, F. A., Gospe, S. M., Jr., Coughlin, C. R., II, van Karnebeek, C. D. M. <strong>Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.</strong> Molec. Genet. Metab. 135: 350-356, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35279367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35279367</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35279367">Tseng et al. (2022)</a> evaluated clinical outcomes in 37 patients, including 17 sib pairs and 1 sib trio, from 18 families with pyridoxine-dependent epilepsy. One sib of each family was treated early (2 sibs in the case of the sib trio) at an average age of 7 days, and one sib of each family was treated late, at an average age of 150 days. Nine of the sib pairs and the sib trio were treated with pyridoxine monotherapy and 8 sib pairs were treated with pyridoxine and lysine reduction therapies (LRT). Of the sib pairs treated with pyridoxine monotherapy, the early-treated sibs had better fine motor skills. Of the sib pairs treated with both pyridoxine and LRT, the early-treated sibs had fewer psychiatric/behavioral manifestations. There was not a significant difference between full-scale intelligence quotient (FSIQ) scores in early- versus late-treated patients in the 4 sib pairs who were tested. Fourteen percent of the entire cohort was assessed as normal in all domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35279367" 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>Pyridoxine-dependent epilepsy shows autosomal recessive inheritance (<a href="#11" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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="#13" class="mim-tip-reference" title="Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W. <strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong> Hum. Mutat. 28: 19-26, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17068770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17068770</a>] [<a href="https://doi.org/10.1002/humu.20433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17068770">Plecko et al. (2007)</a> noted that in pyridoxine-dependent epilepsy, pipecolic acid (PA) and alpha-amino adipic semialdehyde (AASA) are markedly elevated in urine, plasma, and cerebrospinal fluid, and thus can be used as biomarkers of the disorder. Pyridoxine withdrawal is no longer needed to establish the diagnosis of 'definite' EPD. Administration of pyridoxine may not only correct secondary pyridoxalphosphate (PLP) deficiency, but may also lead to a reduction of AASA and P6C (piperideine-6-carboxylate) as presumably toxic compounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17068770" 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="#18" class="mim-tip-reference" title="Struys, E. A. <strong>Personal Communication.</strong> Amsterdam, The Netherlands 6/15/2007."None>Struys (2007)</a> pointed out that in pyridoxine-dependent epilepsy, plasma pipecolic acid is only modestly elevated and that the elevation of AASA in urine, plasma, and cerebral spinal fluid is the most reliable basis for diagnosis. AASA dehydrogenase deficiency is the cause of pyridoxine-dependent epilepsy in a vast majority of cases; some cases are caused by hyperprolinemia II (<a href="/entry/239510">239510</a>).</p><p><a href="#6" class="mim-tip-reference" title="Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C. <strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong> Arch. Dis. Child. 92: 687-689, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>] [<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088338">Bok et al. (2007)</a> reevaluated the diagnosis of pyridoxine-dependent seizures in 11 Dutch patients who had been previously been diagnosed with 'definite' (4), 'probable' (3) or 'possible' (4) EPD using clinical criteria based on questionnaires (<a href="#3" class="mim-tip-reference" title="Been, J. V., Bok, L. A., Andriessen, P., Renier, W. O. <strong>Epidemiology of pyridoxine dependent seizures in the Netherlands.</strong> Arch. Dis. Child. 90: 1293-1296, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159904</a>] [<a href="https://doi.org/10.1136/adc.2005.075069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159904">Been et al., 2005</a>). Using metabolic parameters, <a href="#6" class="mim-tip-reference" title="Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C. <strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong> Arch. Dis. Child. 92: 687-689, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>] [<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088338">Bok et al. (2007)</a> confirmed the disorder in all 4 with definite, 2 with probable, and 3 with possible EPD. Patients with EPD had increased plasma and urinary AASA, whereas those without the disorder had normal AASA levels. Plasma PA levels were also increased in these patients, but urinary PA was normal. <a href="#6" class="mim-tip-reference" title="Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C. <strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong> Arch. Dis. Child. 92: 687-689, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>] [<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088338">Bok et al. (2007)</a> concluded that noninvasive urinary screening for AASA accumulation is a reliable tool to diagnose EPD and can thus avoid the potentially dangerous pyridoxine withdrawal test. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17088338+16159904" 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="#7" class="mim-tip-reference" title="Cormier-Daire, V., Dagoneau, N., Nabbout, R., Burglen, L., Penet, C, Soufflet, C., Desguerre, I., Munnich, A., Dulac, O. <strong>A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.</strong> Am. J. Hum. Genet. 67: 991-993, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10978228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10978228</a>] [<a href="https://doi.org/10.1086/303087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10978228">Cormier-Daire et al. (2000)</a> performed genetic linkage analysis in 5 affected families, 4 with consanguineous parents and 1 with nonconsanguineous parents. They excluded the GAD1 gene on chromosome 2q31 and the GAD2 gene (<a href="/entry/138275">138275</a>) on 10p23 as candidates for mutation in the disorder. A genomewide search using microsatellite markers revealed linkage to a 5.1-cM interval on chromosome 5q31.2-q31.3 (maximum lod score of 8.43 at marker D5S2017). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10978228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bennett, C. L., Huynh, H. M., Chance, P. F., Glass, I. A., Gospe, S. M., Jr. <strong>Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.</strong> Neurogenetics 6: 143-149, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16075246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16075246</a>] [<a href="https://doi.org/10.1007/s10048-005-0221-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16075246">Bennett et al. (2005)</a> reported 6 small Caucasian North American families with pyridoxine-dependent seizures. Haplotype analysis of 2 families with evidence suggestive of linkage to chromosome 5q31, including 1 reported by <a href="#2" class="mim-tip-reference" title="Battaglioli, G., Rosen, D. R., Gospe, S. M., Jr., Martin, D. L. <strong>Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.</strong> Neurology 55: 309-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10908915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10908915</a>] [<a href="https://doi.org/10.1212/wnl.55.2.309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10908915">Battaglioli et al. (2000)</a>, allowed refinement of the candidate disease interval to a 2.2-cM (2.0-Mb) region between markers D5S2011 and D5S2859. Five of the 6 families showed haplotype segregation consistent with linkage to chromosome 5q31, although the lod score did not reach significance (lod of 1.87 at marker D5S2011). Linkage to chromosome 5 was excluded in 1 family, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10908915+16075246" 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 infants from 8 unrelated families with pyridoxine-dependent epilepsy, <a href="#11" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified homozygous or compound heterozygous mutations in the ALDH7A1 gene (<a href="/entry/107323#0001">107323.0001</a>-<a href="/entry/107323#0007">107323.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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 7 patients from 4 apparently unrelated Dutch families with pyridoxine-dependent epilepsy (<a href="#3" class="mim-tip-reference" title="Been, J. V., Bok, L. A., Andriessen, P., Renier, W. O. <strong>Epidemiology of pyridoxine dependent seizures in the Netherlands.</strong> Arch. Dis. Child. 90: 1293-1296, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159904</a>] [<a href="https://doi.org/10.1136/adc.2005.075069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159904">Been et al., 2005</a>; <a href="#6" class="mim-tip-reference" title="Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C. <strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong> Arch. Dis. Child. 92: 687-689, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>] [<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088338">Bok et al., 2007</a>), <a href="#14" class="mim-tip-reference" title="Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C. <strong>An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).</strong> Ann. Neurol. 62: 414-418, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721876</a>] [<a href="https://doi.org/10.1002/ana.21206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721876">Salomons et al. (2007)</a> identified a homozygous mutation in the ALDH7A1 gene (E399Q; <a href="/entry/107323#0001">107323.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17088338+17721876+16159904" 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="#11" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> determined that the ALDH7A1 gene product is an AASA dehydrogenase in the pipecolic acid pathway of lysine catabolism. Deficiency of the enzyme results in seizures because accumulating P6C condenses with and inactivates PLP, an essential cofactor in neurotransmitter metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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="#5" class="mim-tip-reference" title="Bennett, C. L., Huynh, H. M., Chance, P. F., Glass, I. A., Gospe, S. M., Jr. <strong>Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.</strong> Neurogenetics 6: 143-149, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16075246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16075246</a>] [<a href="https://doi.org/10.1007/s10048-005-0221-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16075246">Bennett et al. (2005)</a> stated that the prevalence of pyridoxine-dependent epilepsy is estimated at 1 in 400,000 to 700,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16075246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C. <strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong> Arch. Dis. Child. 92: 687-689, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>] [<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088338">Bok et al. (2007)</a> estimated the incidence of pyridoxine-dependent seizures in the Netherlands to be 1 in 276,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17088338" 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>Using CRISPR/Cas9 gene editing, <a href="#12" class="mim-tip-reference" title="Pena, I. A., Roussel, Y., Daniel, K., Mongeon, K., Johnstone, D., Weinschutz Mendes, H., Bosma, M., Saxena, V., Lepage, N., Chakraborty, P., Dyment, D. A., van Karnebeek, C. D. M., Verhoeven-Duif, N., Bui, T. V., Boycott, K. M., Ekker, M., MacKenzie, A. <strong>Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency.</strong> Genetics 207: 1501-1518, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29061647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29061647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29061647[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1534/genetics.117.300137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29061647">Pena et al. (2017)</a> generated an aldh7a1-null zebrafish model that recapitulated the clinical and biochemical features of EPD. Beginning at 10 days postfertilization, mutant larvae displayed features consistent with an epilepsy phenotype, including spontaneous and recurrent seizures, epileptoform electrographic activity, and early death. Treatment with pyridoxine and PLP extended life span in mutant larvae, and pyridoxine treatment also alleviated the manifestation of seizures. Mass spectrometry revealed accumulation of EPD biomarkers, including AASA and P6C, B6 vitamin deficiency, and low gamma-aminobutyric acid levels in mutant fish, indicating that the ablation of aldh7a1 disrupted lysine degradation. Lysine supplementation aggravated the epilepsy phenotype in mutant larvae, inducing earlier seizure onset and death. Combination supplementation with pyridoxine and lysine suggested the existence of a critical 'seizure-inducing' level for AASA/P6C that was reached more rapidly with lysine supplementation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29061647" 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>The defect in pyridoxine-dependent epilepsy had initially been proposed to reside in the glutamic acid decarboxylase-1 gene (GAD1; <a href="/entry/605363">605363</a>) (<a href="#16" class="mim-tip-reference" title="Scriver, C. R., Whelan, D. T. <strong>Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures.</strong> Ann. N.Y. Acad. Sci. 166: 83-96, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5262035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5262035</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1969.tb54259.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5262035">Scriver and Whelan, 1969</a>; <a href="#21" class="mim-tip-reference" title="Yoshida, T., Tada, K., Arakawa, T. S. <strong>Vitamin B6 dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B6 dependent convulsion.</strong> Tohoku J. Exp. Med. 104: 195-198, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5566248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5566248</a>] [<a href="https://doi.org/10.1620/tjem.104.195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5566248">Yoshida et al., 1971</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5566248+5262035" 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="#Bachman1983" class="mim-tip-reference" title="Bachman, D. S. <strong>Late-onset pyridoxine-dependency convulsions.</strong> Ann. Neurol. 14: 692-693, 1983.">Bachman (1983)</a>; <a href="#Krishnamoorthy1983" class="mim-tip-reference" title="Krishnamoorthy, K. S. <strong>Pyridoxine-dependency seizure: report of a rare presentation.</strong> Ann. Neurol. 13: 103-104, 1983.">Krishnamoorthy (1983)</a>; <a href="#Scriver1963" class="mim-tip-reference" title="Scriver, C. R., Hutchison, J. H. <strong>The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations.</strong> Pediatrics 31: 240-250, 1963.">Scriver and Hutchison (1963)</a>; <a href="#Scriver1967" class="mim-tip-reference" title="Scriver, C. R. <strong>Vitamin B6 deficiency and dependency in man.</strong> Am. J. Dis. Child. 113: 109-114, 1967.">Scriver (1967)</a>
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Bachman, D. S.
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<strong>Late-onset pyridoxine-dependency convulsions.</strong>
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Ann. Neurol. 14: 692-693, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6651254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410140618" target="_blank">Full Text</a>]
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Battaglioli, G., Rosen, D. R., Gospe, S. M., Jr., Martin, D. L.
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<strong>Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.</strong>
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Neurology 55: 309-311, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10908915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10908915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10908915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.55.2.309" target="_blank">Full Text</a>]
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Been, J. V., Bok, L. A., Andriessen, P., Renier, W. O.
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Arch. Dis. Child. 90: 1293-1296, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.2005.075069" target="_blank">Full Text</a>]
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Bejsovec, M., Kulenda, Z., Ponca, E.
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<strong>Familial intrauterine convulsions in pyridoxine dependency.</strong>
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Arch. Dis. Child. 42: 201-207, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6024470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6024470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6024470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.42.222.201" target="_blank">Full Text</a>]
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Bennett, C. L., Huynh, H. M., Chance, P. F., Glass, I. A., Gospe, S. M., Jr.
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<strong>Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.</strong>
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Neurogenetics 6: 143-149, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16075246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16075246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16075246" 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/10.1007/s10048-005-0221-8" target="_blank">Full Text</a>]
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Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C.
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<strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong>
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Arch. Dis. Child. 92: 687-689, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17088338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank">Full Text</a>]
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Cormier-Daire, V., Dagoneau, N., Nabbout, R., Burglen, L., Penet, C, Soufflet, C., Desguerre, I., Munnich, A., Dulac, O.
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<strong>A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10978228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10978228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10978228" 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/10.1086/303087" target="_blank">Full Text</a>]
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<strong>Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3977296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3977296</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3977296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410170203" target="_blank">Full Text</a>]
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Hunt, A. D., Jr., Stokes, J., Jr., McCrory, W. W., Stroud, H. H.
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<strong>Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13133562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13133562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13133562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Krishnamoorthy, K. S.
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<strong>Pyridoxine-dependency seizure: report of a rare presentation.</strong>
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Ann. Neurol. 13: 103-104, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6830153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6830153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6830153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410130123" target="_blank">Full Text</a>]
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Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T.
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<strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong>
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Nature Med. 12: 307-309, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nm1366" target="_blank">Full Text</a>]
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Pena, I. A., Roussel, Y., Daniel, K., Mongeon, K., Johnstone, D., Weinschutz Mendes, H., Bosma, M., Saxena, V., Lepage, N., Chakraborty, P., Dyment, D. A., van Karnebeek, C. D. M., Verhoeven-Duif, N., Bui, T. V., Boycott, K. M., Ekker, M., MacKenzie, A.
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<strong>Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency.</strong>
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Genetics 207: 1501-1518, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29061647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29061647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29061647[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29061647" 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/10.1534/genetics.117.300137" target="_blank">Full Text</a>]
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Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W.
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<strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong>
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Hum. Mutat. 28: 19-26, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17068770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17068770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17068770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20433" target="_blank">Full Text</a>]
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Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C.
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Ann. Neurol. 62: 414-418, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21206" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Scriver1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scriver, C. R., Hutchison, J. H.
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<strong>The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations.</strong>
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Pediatrics 31: 240-250, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13992602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13992602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13992602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Scriver1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scriver, C. R., Whelan, D. T.
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|
<strong>Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures.</strong>
|
|
Ann. N.Y. Acad. Sci. 166: 83-96, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5262035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5262035</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5262035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1749-6632.1969.tb54259.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Scriver1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scriver, C. R.
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<strong>Vitamin B6 deficiency and dependency in man.</strong>
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Am. J. Dis. Child. 113: 109-114, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5333772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5333772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5333772" 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/archpedi.1967.02090160159025" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Struys2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Struys, E. A.
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<strong>Personal Communication.</strong>
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Amsterdam, The Netherlands 6/15/2007.
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Tseng2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tseng, L. A., Abdenur, J. E., Andrews, A., Aziz, V. G., Bok, L. A., Boyer, M., Buhas, D., Hartmann, H., Footitt, E. J., Gronborg, S., Janssen, M. C. H., Longo, N., Lunsing, R. J., MacKenzie, A. E., Wijburg, F. A., Gospe, S. M., Jr., Coughlin, C. R., II, van Karnebeek, C. D. M.
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<strong>Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.</strong>
|
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Molec. Genet. Metab. 135: 350-356, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35279367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35279367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35279367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2022.02.005" target="_blank">Full Text</a>]
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Waldinger1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waldinger, C.
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<strong>Pyridoxine deficiency and pyridoxine dependency in infants and children.</strong>
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Postgrad. Med. 35: 415-422, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14131641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14131641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14131641" 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/10.1080/00325481.1964.11695089" target="_blank">Full Text</a>]
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Yoshida1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshida, T., Tada, K., Arakawa, T. S.
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<strong>Vitamin B6 dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B6 dependent convulsion.</strong>
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Tohoku J. Exp. Med. 104: 195-198, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5566248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5566248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5566248" 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/10.1620/tjem.104.195" target="_blank">Full Text</a>]
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/27/2022
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Jane A. Welch - updated : 02/02/2018<br>Cassandra L. Kniffin - updated : 3/20/2008<br>Victor A. McKusick - updated : 8/16/2007<br>Victor A. McKusick - updated : 3/12/2007<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Cassandra L. Kniffin - updated : 11/9/2005<br>Victor A. McKusick - updated : 10/20/2000<br>Ada Hamosh - updated : 5/13/1999<br>Victor A. McKusick - updated : 11/6/1997<br>Victor A. McKusick - updated : 8/11/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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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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Victor A. McKusick : 6/4/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/24/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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ckniffin : 10/23/2023<br>carol : 04/27/2022<br>carol : 07/30/2021<br>carol : 07/29/2021<br>carol : 07/23/2021<br>mgross : 02/02/2018<br>carol : 12/22/2017<br>alopez : 09/19/2016<br>wwang : 05/29/2008<br>wwang : 3/31/2008<br>ckniffin : 3/21/2008<br>ckniffin : 3/20/2008<br>alopez : 8/28/2007<br>terry : 8/16/2007<br>alopez : 3/21/2007<br>terry : 3/12/2007<br>wwang : 1/2/2007<br>ckniffin : 12/21/2006<br>wwang : 11/30/2005<br>ckniffin : 11/30/2005<br>wwang : 11/22/2005<br>ckniffin : 11/9/2005<br>joanna : 3/18/2004<br>carol : 10/25/2000<br>terry : 10/20/2000<br>carol : 7/26/1999<br>alopez : 5/13/1999<br>terry : 5/13/1999<br>dkim : 7/21/1998<br>jenny : 11/12/1997<br>terry : 11/6/1997<br>mark : 8/15/1997<br>dholmes : 8/14/1997<br>terry : 8/11/1997<br>mark : 4/9/1997<br>carol : 8/22/1994<br>jason : 6/7/1994<br>mimadm : 3/12/1994<br>carol : 11/10/1993<br>carol : 7/13/1993<br>carol : 12/17/1992
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</span>
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</div>
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</div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 266100
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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EPILEPSY, PYRIDOXINE-DEPENDENT; EPD<br />
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PYRIDOXINE-DEPENDENT EPILEPSY; PDE<br />
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PYRIDOXINE DEPENDENCY WITH SEIZURES<br />
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AASA DEHYDROGENASE DEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 734434007;
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<strong>ORPHA:</strong> 3006;
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<strong>DO:</strong> 0070519;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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5q23.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Epilepsy, early-onset, 4, vitamin B6-dependent
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</span>
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</td>
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<td>
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<span class="mim-font">
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266100
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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ALDH7A1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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107323
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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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>TEXT</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>A number sign (#) is used with this entry because of evidence that early-onset vitamin B6-dependent epilepsy-4 (EPEO4) is caused by homozygous or compound heterozygous mutation in the ALDH7A1 gene (107323) on chromosome 5q23.</p>
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</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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<h4>
|
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<span class="mim-font">
|
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<strong>Description</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>Early-onset vitamin B6-dependent epilespy-4 (EPEO4), characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005). </p><p>For a discussion of genetic heterogeneity of EPEO, see 617290.</p>
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</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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<h4>
|
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<span class="mim-font">
|
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<strong>Clinical Features</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>Pyridoxine-dependent epilepsy was first described by Hunt et al. (1954). Waldinger (1964) described 3 sibs of Italian ancestry in whom pyridoxine dependency was manifest by convulsions at birth. Four previously reported sibships with more than 1 affected sib were referred to. Bejsovec et al. (1967) described 3 sibs with intrauterine convulsions. The first 2 (females) died in status epilepticus. The third was shown to have pyridoxine dependency. Thus, this is one form of 'convulsive disorder, familial, with prenatal or early onset' (217200). </p><p>Goutieres and Aicardi (1985) reported 3 patients with atypical pyridoxine-dependent seizures. Each had either late onset of convulsions or seizure-free intervals of up to several months' duration without B6 supplementation. The findings, together with those in 9 previously reported cases, led the authors to urge a trial of pyridoxine in all cases of seizure disorders with onset before 18 months of age, regardless of type. Autosomal recessive inheritance was supported by parental consanguinity in the case of an affected female infant whose elder brother died at 8 months of age of unexplained status epilepticus. </p><p>Bennett et al. (2005) reported 6 Caucasian North American families with pyridoxine-dependent seizures. Two of the families had been reported by Battaglioli et al. (2000). </p><p>Mills et al. (2006) reported 13 patients from 8 unrelated families with pyridoxine-dependent epilepsy. Seizures usually started on the first day of life, but in 1 case were delayed until 3 weeks of age. Clonic seizures, generalized tonic seizures, and myoclonic jerks were all observed. Seizures were resistant to the usual anticonvulsant drugs in all but 1 case, but stopped completely and immediately upon treatment with pyridoxine. Plasma and cerebrospinal fluid levels of pipecolic acid were increased. Despite early and good control of seizures, all but 1 child showed developmental delay, ranging from mild to severe, with psychomotor difficulties and speech delay. Other features in the neonatal period included respiratory distress, acidosis, and abdominal distention and vomiting. The parents in 6 of the families were consanguineous; the families were of Dutch, Austrian, Bosnian, Turkish, Arab, and Asian origin. </p><p>Tseng et al. (2022) evaluated clinical outcomes in 37 patients, including 17 sib pairs and 1 sib trio, from 18 families with pyridoxine-dependent epilepsy. One sib of each family was treated early (2 sibs in the case of the sib trio) at an average age of 7 days, and one sib of each family was treated late, at an average age of 150 days. Nine of the sib pairs and the sib trio were treated with pyridoxine monotherapy and 8 sib pairs were treated with pyridoxine and lysine reduction therapies (LRT). Of the sib pairs treated with pyridoxine monotherapy, the early-treated sibs had better fine motor skills. Of the sib pairs treated with both pyridoxine and LRT, the early-treated sibs had fewer psychiatric/behavioral manifestations. There was not a significant difference between full-scale intelligence quotient (FSIQ) scores in early- versus late-treated patients in the 4 sib pairs who were tested. Fourteen percent of the entire cohort was assessed as normal in all domains. </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 class="mim-text-font">
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<p>Pyridoxine-dependent epilepsy shows autosomal recessive inheritance (Mills et al., 2006). </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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<span class="mim-text-font">
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<p>Plecko et al. (2007) noted that in pyridoxine-dependent epilepsy, pipecolic acid (PA) and alpha-amino adipic semialdehyde (AASA) are markedly elevated in urine, plasma, and cerebrospinal fluid, and thus can be used as biomarkers of the disorder. Pyridoxine withdrawal is no longer needed to establish the diagnosis of 'definite' EPD. Administration of pyridoxine may not only correct secondary pyridoxalphosphate (PLP) deficiency, but may also lead to a reduction of AASA and P6C (piperideine-6-carboxylate) as presumably toxic compounds. </p><p>Struys (2007) pointed out that in pyridoxine-dependent epilepsy, plasma pipecolic acid is only modestly elevated and that the elevation of AASA in urine, plasma, and cerebral spinal fluid is the most reliable basis for diagnosis. AASA dehydrogenase deficiency is the cause of pyridoxine-dependent epilepsy in a vast majority of cases; some cases are caused by hyperprolinemia II (239510).</p><p>Bok et al. (2007) reevaluated the diagnosis of pyridoxine-dependent seizures in 11 Dutch patients who had been previously been diagnosed with 'definite' (4), 'probable' (3) or 'possible' (4) EPD using clinical criteria based on questionnaires (Been et al., 2005). Using metabolic parameters, Bok et al. (2007) confirmed the disorder in all 4 with definite, 2 with probable, and 3 with possible EPD. Patients with EPD had increased plasma and urinary AASA, whereas those without the disorder had normal AASA levels. Plasma PA levels were also increased in these patients, but urinary PA was normal. Bok et al. (2007) concluded that noninvasive urinary screening for AASA accumulation is a reliable tool to diagnose EPD and can thus avoid the potentially dangerous pyridoxine withdrawal test. </p>
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</span>
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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>Cormier-Daire et al. (2000) performed genetic linkage analysis in 5 affected families, 4 with consanguineous parents and 1 with nonconsanguineous parents. They excluded the GAD1 gene on chromosome 2q31 and the GAD2 gene (138275) on 10p23 as candidates for mutation in the disorder. A genomewide search using microsatellite markers revealed linkage to a 5.1-cM interval on chromosome 5q31.2-q31.3 (maximum lod score of 8.43 at marker D5S2017). </p><p>Bennett et al. (2005) reported 6 small Caucasian North American families with pyridoxine-dependent seizures. Haplotype analysis of 2 families with evidence suggestive of linkage to chromosome 5q31, including 1 reported by Battaglioli et al. (2000), allowed refinement of the candidate disease interval to a 2.2-cM (2.0-Mb) region between markers D5S2011 and D5S2859. Five of the 6 families showed haplotype segregation consistent with linkage to chromosome 5q31, although the lod score did not reach significance (lod of 1.87 at marker D5S2011). Linkage to chromosome 5 was excluded in 1 family, indicating genetic heterogeneity. </p>
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</span>
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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 infants from 8 unrelated families with pyridoxine-dependent epilepsy, Mills et al. (2006) identified homozygous or compound heterozygous mutations in the ALDH7A1 gene (107323.0001-107323.0007). </p><p>In 7 patients from 4 apparently unrelated Dutch families with pyridoxine-dependent epilepsy (Been et al., 2005; Bok et al., 2007), Salomons et al. (2007) identified a homozygous mutation in the ALDH7A1 gene (E399Q; 107323.0001). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</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>Mills et al. (2006) determined that the ALDH7A1 gene product is an AASA dehydrogenase in the pipecolic acid pathway of lysine catabolism. Deficiency of the enzyme results in seizures because accumulating P6C condenses with and inactivates PLP, an essential cofactor in neurotransmitter metabolism. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</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>Bennett et al. (2005) stated that the prevalence of pyridoxine-dependent epilepsy is estimated at 1 in 400,000 to 700,000. </p><p>Bok et al. (2007) estimated the incidence of pyridoxine-dependent seizures in the Netherlands to be 1 in 276,000. </p>
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</span>
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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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</span>
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</h4>
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<span class="mim-text-font">
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<p>Using CRISPR/Cas9 gene editing, Pena et al. (2017) generated an aldh7a1-null zebrafish model that recapitulated the clinical and biochemical features of EPD. Beginning at 10 days postfertilization, mutant larvae displayed features consistent with an epilepsy phenotype, including spontaneous and recurrent seizures, epileptoform electrographic activity, and early death. Treatment with pyridoxine and PLP extended life span in mutant larvae, and pyridoxine treatment also alleviated the manifestation of seizures. Mass spectrometry revealed accumulation of EPD biomarkers, including AASA and P6C, B6 vitamin deficiency, and low gamma-aminobutyric acid levels in mutant fish, indicating that the ablation of aldh7a1 disrupted lysine degradation. Lysine supplementation aggravated the epilepsy phenotype in mutant larvae, inducing earlier seizure onset and death. Combination supplementation with pyridoxine and lysine suggested the existence of a critical 'seizure-inducing' level for AASA/P6C that was reached more rapidly with lysine supplementation. </p>
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</span>
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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>History</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>The defect in pyridoxine-dependent epilepsy had initially been proposed to reside in the glutamic acid decarboxylase-1 gene (GAD1; 605363) (Scriver and Whelan, 1969; Yoshida et al., 1971). </p>
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</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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<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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Bachman (1983); Krishnamoorthy (1983); Scriver and Hutchison (1963);
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Scriver (1967)
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</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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<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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Bachman, D. S.
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<strong>Late-onset pyridoxine-dependency convulsions.</strong>
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Ann. Neurol. 14: 692-693, 1983.
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[PubMed: 6651254]
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[Full Text: https://doi.org/10.1002/ana.410140618]
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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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Battaglioli, G., Rosen, D. R., Gospe, S. M., Jr., Martin, D. L.
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<strong>Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.</strong>
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Neurology 55: 309-311, 2000.
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[PubMed: 10908915]
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[Full Text: https://doi.org/10.1212/wnl.55.2.309]
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</p>
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</li>
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<p class="mim-text-font">
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Been, J. V., Bok, L. A., Andriessen, P., Renier, W. O.
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<strong>Epidemiology of pyridoxine dependent seizures in the Netherlands.</strong>
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Arch. Dis. Child. 90: 1293-1296, 2005.
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[PubMed: 16159904]
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[Full Text: https://doi.org/10.1136/adc.2005.075069]
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</p>
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</li>
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<p class="mim-text-font">
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Bejsovec, M., Kulenda, Z., Ponca, E.
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<strong>Familial intrauterine convulsions in pyridoxine dependency.</strong>
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Arch. Dis. Child. 42: 201-207, 1967.
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[PubMed: 6024470]
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[Full Text: https://doi.org/10.1136/adc.42.222.201]
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</li>
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<p class="mim-text-font">
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Bennett, C. L., Huynh, H. M., Chance, P. F., Glass, I. A., Gospe, S. M., Jr.
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<strong>Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.</strong>
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Neurogenetics 6: 143-149, 2005.
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[PubMed: 16075246]
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[Full Text: https://doi.org/10.1007/s10048-005-0221-8]
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<p class="mim-text-font">
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Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C.
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<strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong>
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Arch. Dis. Child. 92: 687-689, 2007.
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[PubMed: 17088338]
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[Full Text: https://doi.org/10.1136/adc.2006.103192]
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Cormier-Daire, V., Dagoneau, N., Nabbout, R., Burglen, L., Penet, C, Soufflet, C., Desguerre, I., Munnich, A., Dulac, O.
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<strong>A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.</strong>
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Am. J. Hum. Genet. 67: 991-993, 2000.
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[PubMed: 10978228]
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[Full Text: https://doi.org/10.1086/303087]
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Goutieres, F., Aicardi, J.
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<strong>Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants.</strong>
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Ann. Neurol. 17: 117-120, 1985.
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[PubMed: 3977296]
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[Full Text: https://doi.org/10.1002/ana.410170203]
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Hunt, A. D., Jr., Stokes, J., Jr., McCrory, W. W., Stroud, H. H.
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<strong>Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine.</strong>
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Pediatrics 13: 140-145, 1954.
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[PubMed: 13133562]
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Krishnamoorthy, K. S.
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<strong>Pyridoxine-dependency seizure: report of a rare presentation.</strong>
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Ann. Neurol. 13: 103-104, 1983.
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[PubMed: 6830153]
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[Full Text: https://doi.org/10.1002/ana.410130123]
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<p class="mim-text-font">
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Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T.
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<strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong>
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Nature Med. 12: 307-309, 2006.
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[PubMed: 16491085]
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[Full Text: https://doi.org/10.1038/nm1366]
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<p class="mim-text-font">
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Pena, I. A., Roussel, Y., Daniel, K., Mongeon, K., Johnstone, D., Weinschutz Mendes, H., Bosma, M., Saxena, V., Lepage, N., Chakraborty, P., Dyment, D. A., van Karnebeek, C. D. M., Verhoeven-Duif, N., Bui, T. V., Boycott, K. M., Ekker, M., MacKenzie, A.
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<strong>Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency.</strong>
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Genetics 207: 1501-1518, 2017.
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[PubMed: 29061647]
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[Full Text: https://doi.org/10.1534/genetics.117.300137]
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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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Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W.
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<strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong>
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Hum. Mutat. 28: 19-26, 2007.
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[PubMed: 17068770]
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[Full Text: https://doi.org/10.1002/humu.20433]
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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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Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C.
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<strong>An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).</strong>
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Ann. Neurol. 62: 414-418, 2007.
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[PubMed: 17721876]
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[Full Text: https://doi.org/10.1002/ana.21206]
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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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Scriver, C. R., Hutchison, J. H.
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<strong>The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations.</strong>
|
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Pediatrics 31: 240-250, 1963.
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|
[PubMed: 13992602]
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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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Scriver, C. R., Whelan, D. T.
|
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<strong>Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures.</strong>
|
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Ann. N.Y. Acad. Sci. 166: 83-96, 1969.
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[PubMed: 5262035]
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[Full Text: https://doi.org/10.1111/j.1749-6632.1969.tb54259.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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Scriver, C. R.
|
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<strong>Vitamin B6 deficiency and dependency in man.</strong>
|
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Am. J. Dis. Child. 113: 109-114, 1967.
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[PubMed: 5333772]
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[Full Text: https://doi.org/10.1001/archpedi.1967.02090160159025]
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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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Struys, E. A.
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<strong>Personal Communication.</strong>
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Amsterdam, The Netherlands 6/15/2007.
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Tseng, L. A., Abdenur, J. E., Andrews, A., Aziz, V. G., Bok, L. A., Boyer, M., Buhas, D., Hartmann, H., Footitt, E. J., Gronborg, S., Janssen, M. C. H., Longo, N., Lunsing, R. J., MacKenzie, A. E., Wijburg, F. A., Gospe, S. M., Jr., Coughlin, C. R., II, van Karnebeek, C. D. M.
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<strong>Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.</strong>
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Molec. Genet. Metab. 135: 350-356, 2022.
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[PubMed: 35279367]
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[Full Text: https://doi.org/10.1016/j.ymgme.2022.02.005]
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Waldinger, C.
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<strong>Pyridoxine deficiency and pyridoxine dependency in infants and children.</strong>
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Postgrad. Med. 35: 415-422, 1964.
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[PubMed: 14131641]
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[Full Text: https://doi.org/10.1080/00325481.1964.11695089]
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Yoshida, T., Tada, K., Arakawa, T. S.
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<strong>Vitamin B6 dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B6 dependent convulsion.</strong>
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Tohoku J. Exp. Med. 104: 195-198, 1971.
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[PubMed: 5566248]
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[Full Text: https://doi.org/10.1620/tjem.104.195]
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Contributors:
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Hilary J. Vernon - updated : 04/27/2022<br>Jane A. Welch - updated : 02/02/2018<br>Cassandra L. Kniffin - updated : 3/20/2008<br>Victor A. McKusick - updated : 8/16/2007<br>Victor A. McKusick - updated : 3/12/2007<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Cassandra L. Kniffin - updated : 11/9/2005<br>Victor A. McKusick - updated : 10/20/2000<br>Ada Hamosh - updated : 5/13/1999<br>Victor A. McKusick - updated : 11/6/1997<br>Victor A. McKusick - updated : 8/11/1997
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 10/24/2023<br>ckniffin : 10/23/2023<br>carol : 04/27/2022<br>carol : 07/30/2021<br>carol : 07/29/2021<br>carol : 07/23/2021<br>mgross : 02/02/2018<br>carol : 12/22/2017<br>alopez : 09/19/2016<br>wwang : 05/29/2008<br>wwang : 3/31/2008<br>ckniffin : 3/21/2008<br>ckniffin : 3/20/2008<br>alopez : 8/28/2007<br>terry : 8/16/2007<br>alopez : 3/21/2007<br>terry : 3/12/2007<br>wwang : 1/2/2007<br>ckniffin : 12/21/2006<br>wwang : 11/30/2005<br>ckniffin : 11/30/2005<br>wwang : 11/22/2005<br>ckniffin : 11/9/2005<br>joanna : 3/18/2004<br>carol : 10/25/2000<br>terry : 10/20/2000<br>carol : 7/26/1999<br>alopez : 5/13/1999<br>terry : 5/13/1999<br>dkim : 7/21/1998<br>jenny : 11/12/1997<br>terry : 11/6/1997<br>mark : 8/15/1997<br>dholmes : 8/14/1997<br>terry : 8/11/1997<br>mark : 4/9/1997<br>carol : 8/22/1994<br>jason : 6/7/1994<br>mimadm : 3/12/1994<br>carol : 11/10/1993<br>carol : 7/13/1993<br>carol : 12/17/1992
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