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<title>
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Entry
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- #104290 - ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1
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- OMIM
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<span class="h4">#104290</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/104290"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS104290"> <strong>Phenotypic Series</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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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<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><a href="https://clinicaltrials.gov/search?cond=(ALTERNATING HEMIPLEGIA OF CHILDHOOD) OR (ATP1A2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=748&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.diseaseinfosearch.org/x/342" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=104290[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=2131" 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 style="display: table-cell;">Animal Models</div>
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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:0050635" 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/104290" 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:0050635" 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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2131<br />
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<strong>DO:</strong> 0050635<br />
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">ICD+</a>
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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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104290
|
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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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ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<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>
|
|
Gene/Locus
|
|
</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1310?start=-3&limit=10&highlight=1310">
|
|
1q23.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Alternating hemiplegia of childhood 1
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/104290"> 104290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ATP1A2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182340"> 182340 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/104290" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS104290" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/104290" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/104290" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abnormal extraocular movements <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103252009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103252009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0497202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span><br /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Upward eye deviation during episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863068</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemiplegia, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863061&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863061</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012194</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50582007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50582007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G81.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/342.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">342.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002301</a>]</span><br /> -
|
|
Quadriplegia, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863062&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863062</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200072</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11538006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11538006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G82.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G82.50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G82.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G82.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/344.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">344.00</a>]</span><br /> -
|
|
Impaired intellectual development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747273</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 /> -
|
|
Cognitive decline, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span><br /> -
|
|
Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
|
|
Choreoathetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br /> -
|
|
Autonomic involvement affecting limbs during episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863064&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863064</a>]</span><br /> -
|
|
Generalized tonic-clonic seizures in 50% <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863065</a>]</span><br /> -
|
|
Neurologic regression after prolonged episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863066</a>]</span><br /> -
|
|
Headache is usually not a symptom <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863067</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
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|
|
</div>
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<div>
|
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<div>
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- Onset before 18 months of age<br /> -
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- Caused by mutation in the ATPase, Na+K+ transporting, alpha-2 polypeptide gene (ATP1A2, <a href="/entry/182340#0005">182340.0005</a>)<br />
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Alternating hemiplegia of childhood
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- <a href="/phenotypicSeries/PS104290">PS104290</a>
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- 2 Entries
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<a href="/entry/104290"> Alternating hemiplegia of childhood 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/182340"> ATP1A2 </a>
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<a href="/entry/614820"> Alternating hemiplegia of childhood 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/182350"> ATP1A3 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that alternating hemiplegia of childhood-1 (AHC1) is caused by heterozygous mutation in the ATP1A2 gene (<a href="/entry/182340">182340</a>) on chromosome 1q23.</p><p>Familial hemiplegic migraine-2 (FHM2; <a href="/entry/602481">602481</a>) is an allelic disorder with some overlapping features.</p>
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<p>Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (<a href="#5" class="mim-tip-reference" title="Mikati, M. A., Maguire, H., Barlow, C. F., Ozelius, L., Breakefield, X. O., Klauck, S. M., Korf, B., O'Tuama, S. L. A., Dangond, F. <strong>A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.</strong> Neurology 42: 2251-2257, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361034</a>] [<a href="https://doi.org/10.1212/wnl.42.12.2251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1361034">Mikati et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361034" 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>The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; <a href="/entry/141500">141500</a>) and GLUT1 deficiency syndrome (<a href="/entry/606777">606777</a>) (<a href="#6" class="mim-tip-reference" title="Rotstein, M., Doran, J., Yang, H., Ullner, P. M., Engelstad, K., De Vivo, D. C. <strong>GLUT1 deficiency and alternating hemiplegia of childhood.</strong> Neurology 73: 2042-2044, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19996082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19996082</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181c55ebf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19996082">Rotstein et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19996082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Alternating Hemiplegia of Childhood</em></strong></p><p>
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See also AHC2 (<a href="/entry/614820">614820</a>), caused by mutation in the ATP1A3 gene (<a href="/entry/182350">182350</a>).</p>
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<p><a href="#5" class="mim-tip-reference" title="Mikati, M. A., Maguire, H., Barlow, C. F., Ozelius, L., Breakefield, X. O., Klauck, S. M., Korf, B., O'Tuama, S. L. A., Dangond, F. <strong>A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.</strong> Neurology 42: 2251-2257, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361034</a>] [<a href="https://doi.org/10.1212/wnl.42.12.2251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1361034">Mikati et al. (1992)</a> reported what appeared to be the first instance of familial occurrence of alternating hemiplegia of childhood. Inheritance appeared to be autosomal dominant. The proband, a 9-year-old boy, presented with developmental retardation, rare tonic-clonic seizures and frequent episodes of flaccid alternating hemiplegia that had been presumed to represent postictal paralysis. The hemiplegia spells, which started in his first year, did not respond to multiple antiepileptics. Between attacks, there was choreoathetosis and dystonic posturing. A brother, the father, a paternal uncle, and the maternal grandmother had similar histories of alternating hemiplegia. Investigations included negative CT and metabolic studies. EEG and SPECT scanning failed to reveal any significant slowing or major changes in cortical perfusion during hemiplegia as compared with nonhemiplegic periods. The karyotype demonstrated a balanced reciprocal translocation, 46,XY,t(3;9)(p26;q34) in the patient, in all the affected living relatives, and in 1 apparently unaffected sib. The asymptomatic mother had a normal karyotype. Both affected sibs were treated with and responded to flunarizine, a calcium-entry blocker, with a greater than 70% decrease in attack frequency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361034" 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>Among a group of 22 presumably unrelated patients with alternating hemiplegia of childhood, <a href="#2" class="mim-tip-reference" title="Bourgeois, M., Aicardi, J., Goutieres, F. <strong>Alternating hemiplegia of childhood.</strong> J. Pediat. 122: 673-679, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8496742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8496742</a>] [<a href="https://doi.org/10.1016/s0022-3476(06)80003-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8496742">Bourgeois et al. (1993)</a> described onset before 18 months of age, repeated episodes of hemiplegia lasting from a few minutes to several days, the occurrence of tonic or dystonic attacks, nystagmus, dyspnea, cognitive impairment, and choreoathetosis. All of the patients also had episodes of quadriplegia that occurred either when a hemiplegia was shifting from one side to the other or as an isolated phenomenon. Six patients also had epileptic seizures, but <a href="#2" class="mim-tip-reference" title="Bourgeois, M., Aicardi, J., Goutieres, F. <strong>Alternating hemiplegia of childhood.</strong> J. Pediat. 122: 673-679, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8496742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8496742</a>] [<a href="https://doi.org/10.1016/s0022-3476(06)80003-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8496742">Bourgeois et al. (1993)</a> considered the 2 disorders to be distinct. Treatment with flunarizine was partially effective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8496742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Kramer, U., Nevo, Y., Margalit, D., Shorer, Z., Harel, S. <strong>Alternating hemiplegia of childhood in half-sisters.</strong> J. Child Neurol. 15: 128-130, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10695898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10695898</a>] [<a href="https://doi.org/10.1177/088307380001500212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10695898">Kramer et al. (2000)</a> reported 2 half sisters with alternating hemiplegia of childhood who had the same mother and different fathers. The authors ruled out mitochondrial abnormalities and suggested autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10695898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Kanavakis, E., Xaidara, A., Papathanasiou-Klontza, D., Papadimitiou, A., Velentza, A., Youroukos, S. <strong>Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.</strong> Dev. Med. Child Neurol. 45: 833-836, 2003. Note: Erratum: Dev. Med. Child Neurol. 46: 288 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667076</a>] [<a href="https://doi.org/10.1017/s0012162203001543" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14667076">Kanavakis et al. (2003)</a> reported a family with alternating hemiplegia of childhood inherited in an autosomal dominant pattern. The proband was a 9-year-old boy with mental retardation, tonic-clonic seizures, dystonic attacks, and episodes of alternating hemiplegia starting at age 2.5 years. His mother, 3 brothers, and maternal uncle had similar symptoms. Other clinical features included autonomic changes in affected limbs and abnormal extraocular movements. Brain imaging, cytogenetic analysis, and mitochondrial DNA analysis were normal. Headache was not a feature. Flunarizine treatment reduced the severity of episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14667076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Sampedro Castaneda, M., Zanoteli, E., Scalco, R. S., Scaramuzzi, V., Marques Caldas, V., Conti Reed, U., da Silva, A. M. S., O'Callaghan, B., Phadke, R., Bugiardini, E., Sud, R., McCall, S., Hanna, M. G., Poulsen, H., Mannikko, R., Matthews, E. <strong>A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.</strong> Brain 141: 3308-3318, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30423015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30423015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30423015[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awy283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30423015">Sampedro Castaneda et al. (2018)</a> reported a 9-year-old Brazilian boy with episodic flaccid muscle weakness. At age 2 months, he showed absence seizures that evolved to status epilepticus, but were eventually controlled with medication with difficulty. He had global developmental delay: he walked just before 3 years of age and had speech delay and learning difficulties. At age 2 years, he developed tetraparesis and dysphagia associated with a respiratory tract infection. The episodes, which were bilateral, continued, lasting hours to days. Laboratory studies during the episodes showed increased serum creatine kinase and low serum potassium. Electrophysiologic studies showed reduced compound muscle action potentials (CMAPs), suggesting peripheral impairment of neuromuscular function. The symptoms improved with potassium, but worsened with acetazolamide. There was no family history of a similar disorder. <a href="#7" class="mim-tip-reference" title="Sampedro Castaneda, M., Zanoteli, E., Scalco, R. S., Scaramuzzi, V., Marques Caldas, V., Conti Reed, U., da Silva, A. M. S., O'Callaghan, B., Phadke, R., Bugiardini, E., Sud, R., McCall, S., Hanna, M. G., Poulsen, H., Mannikko, R., Matthews, E. <strong>A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.</strong> Brain 141: 3308-3318, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30423015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30423015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30423015[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awy283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30423015">Sampedro Castaneda et al. (2018)</a> noted the phenotypic similarities to hypokalemic periodic paralysis (see <a href="/entry/170400">170400</a>) but with additional central nervous system involvement, thus expanding the phenotypic spectrum of ATP1A2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30423015" 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 transmission pattern of AHC1 in the family reported by <a href="#3" class="mim-tip-reference" title="Kanavakis, E., Xaidara, A., Papathanasiou-Klontza, D., Papadimitiou, A., Velentza, A., Youroukos, S. <strong>Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.</strong> Dev. Med. Child Neurol. 45: 833-836, 2003. Note: Erratum: Dev. Med. Child Neurol. 46: 288 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667076</a>] [<a href="https://doi.org/10.1017/s0012162203001543" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14667076">Kanavakis et al. (2003)</a> and <a href="#8" class="mim-tip-reference" title="Swoboda, K. J., Kanavakis, E., Xaidara, A., Johnson, J. E., Leppert, M. F., Schlesinger-Massart, M. B., Ptacek, L. J., Silver, K., Youroukos, S. <strong>Alternating hemiplegia of childhood or familial hemiplegic migraine?: a novel ATP1A2 mutation.</strong> Ann. Neurol. 55: 884-887, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15174025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15174025</a>] [<a href="https://doi.org/10.1002/ana.20134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15174025">Swoboda et al. (2004)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14667076+15174025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of the family reported by <a href="#3" class="mim-tip-reference" title="Kanavakis, E., Xaidara, A., Papathanasiou-Klontza, D., Papadimitiou, A., Velentza, A., Youroukos, S. <strong>Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.</strong> Dev. Med. Child Neurol. 45: 833-836, 2003. Note: Erratum: Dev. Med. Child Neurol. 46: 288 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667076</a>] [<a href="https://doi.org/10.1017/s0012162203001543" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14667076">Kanavakis et al. (2003)</a>, <a href="#8" class="mim-tip-reference" title="Swoboda, K. J., Kanavakis, E., Xaidara, A., Johnson, J. E., Leppert, M. F., Schlesinger-Massart, M. B., Ptacek, L. J., Silver, K., Youroukos, S. <strong>Alternating hemiplegia of childhood or familial hemiplegic migraine?: a novel ATP1A2 mutation.</strong> Ann. Neurol. 55: 884-887, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15174025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15174025</a>] [<a href="https://doi.org/10.1002/ana.20134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15174025">Swoboda et al. (2004)</a> identified a thr378-to-asn mutation in the ATP1A2 gene (T378N; <a href="/entry/182340#0005">182340.0005</a>). Mutation analysis in 8 sporadic patients and affected subjects from 5 additional kindreds with alternating hemiplegia of childhood did not identify additional mutations in the ATP1A2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14667076+15174025" 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 4 affected members of a Greek family with alternating hemiplegia of childhood, <a href="#1" class="mim-tip-reference" title="Bassi, M. T., Bresolin, N., Tonelli, A., Nazos, K., Crippa, F., Baschirotto, C., Zucca, C., Bersano, A., Dolcetta, D., Boneschi, F. M., Barone, V., Casari, G. <strong>A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.</strong> J. Med. Genet. 41: 621-628, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15286158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15286158</a>] [<a href="https://doi.org/10.1136/jmg.2003.017863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15286158">Bassi et al. (2004)</a> identified the T378N mutation in the ATP1A2 gene. Mutation analysis of the ATP1A2 gene in 10 sporadic patients was negative. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15286158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 9-year-old Brazilian boy with episodic flaccid muscle weakness that was responsive to potassium supplementation, <a href="#7" class="mim-tip-reference" title="Sampedro Castaneda, M., Zanoteli, E., Scalco, R. S., Scaramuzzi, V., Marques Caldas, V., Conti Reed, U., da Silva, A. M. S., O'Callaghan, B., Phadke, R., Bugiardini, E., Sud, R., McCall, S., Hanna, M. G., Poulsen, H., Mannikko, R., Matthews, E. <strong>A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.</strong> Brain 141: 3308-3318, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30423015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30423015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30423015[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awy283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30423015">Sampedro Castaneda et al. (2018)</a> identified a de novo heterozygous S779N variant (<a href="/entry/182340#0023">182340.0023</a>) in the highly conserved K+ binding site of the enzyme. The mutation, which was found by Sanger sequencing, was not present in the gnomAD database. In vitro electrophysiologic studies in Xenopus oocytes showed that the mutation caused a 'leaky' inward current in the mutant pump in the presence of both high and low K+ concentrations, as well as altered Na+/K+ turnover activity rates of the pump. The voltage dependence of transient currents was left-shifted in mutant pumps. These changes were predicted to underlie abnormal membrane depolarization, resulting in muscle inexcitability leading to paralysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30423015" 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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Bassi, M. T., Bresolin, N., Tonelli, A., Nazos, K., Crippa, F., Baschirotto, C., Zucca, C., Bersano, A., Dolcetta, D., Boneschi, F. M., Barone, V., Casari, G.
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<strong>A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.</strong>
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J. Med. Genet. 41: 621-628, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15286158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15286158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15286158" 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/jmg.2003.017863" target="_blank">Full Text</a>]
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Bourgeois, M., Aicardi, J., Goutieres, F.
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<strong>Alternating hemiplegia of childhood.</strong>
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J. Pediat. 122: 673-679, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8496742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8496742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8496742" 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/s0022-3476(06)80003-x" target="_blank">Full Text</a>]
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Kanavakis, E., Xaidara, A., Papathanasiou-Klontza, D., Papadimitiou, A., Velentza, A., Youroukos, S.
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<strong>Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.</strong>
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Dev. Med. Child Neurol. 45: 833-836, 2003. Note: Erratum: Dev. Med. Child Neurol. 46: 288 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667076</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14667076" 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/10.1017/s0012162203001543" target="_blank">Full Text</a>]
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Kramer, U., Nevo, Y., Margalit, D., Shorer, Z., Harel, S.
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<strong>Alternating hemiplegia of childhood in half-sisters.</strong>
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J. Child Neurol. 15: 128-130, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10695898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10695898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10695898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mikati, M. A., Maguire, H., Barlow, C. F., Ozelius, L., Breakefield, X. O., Klauck, S. M., Korf, B., O'Tuama, S. L. A., Dangond, F.
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<strong>A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.</strong>
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Neurology 42: 2251-2257, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361034" 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.42.12.2251" target="_blank">Full Text</a>]
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Rotstein, M., Doran, J., Yang, H., Ullner, P. M., Engelstad, K., De Vivo, D. C.
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<strong>GLUT1 deficiency and alternating hemiplegia of childhood.</strong>
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Neurology 73: 2042-2044, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19996082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19996082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19996082" 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.0b013e3181c55ebf" target="_blank">Full Text</a>]
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Sampedro Castaneda, M., Zanoteli, E., Scalco, R. S., Scaramuzzi, V., Marques Caldas, V., Conti Reed, U., da Silva, A. M. S., O'Callaghan, B., Phadke, R., Bugiardini, E., Sud, R., McCall, S., Hanna, M. G., Poulsen, H., Mannikko, R., Matthews, E.
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<strong>A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.</strong>
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Brain 141: 3308-3318, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30423015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30423015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30423015[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=30423015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awy283" target="_blank">Full Text</a>]
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Swoboda, K. J., Kanavakis, E., Xaidara, A., Johnson, J. E., Leppert, M. F., Schlesinger-Massart, M. B., Ptacek, L. J., Silver, K., Youroukos, S.
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<strong>Alternating hemiplegia of childhood or familial hemiplegic migraine?: a novel ATP1A2 mutation.</strong>
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Ann. Neurol. 55: 884-887, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15174025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15174025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15174025" 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.20134" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 11/05/2021
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Cassandra L. Kniffin - updated : 1/24/2011<br>Marla J. F. O'Neill - updated : 11/3/2004<br>Cassandra L. Kniffin - updated : 8/4/2004
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Victor A. McKusick : 3/16/1994
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alopez : 11/10/2021
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ckniffin : 11/05/2021<br>alopez : 04/23/2021<br>carol : 03/20/2019<br>carol : 08/05/2016<br>carol : 09/14/2012<br>ckniffin : 9/13/2012<br>wwang : 2/17/2011<br>ckniffin : 1/24/2011<br>tkritzer : 11/11/2004<br>tkritzer : 11/4/2004<br>terry : 11/3/2004<br>tkritzer : 8/10/2004<br>ckniffin : 8/4/2004<br>ckniffin : 8/4/2004<br>carol : 3/16/1994
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ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1
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<strong>ORPHA:</strong> 2131;
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<strong>DO:</strong> 0050635;
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1q23.2
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Alternating hemiplegia of childhood 1
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104290
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Autosomal dominant
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ATP1A2
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182340
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<p>A number sign (#) is used with this entry because of evidence that alternating hemiplegia of childhood-1 (AHC1) is caused by heterozygous mutation in the ATP1A2 gene (182340) on chromosome 1q23.</p><p>Familial hemiplegic migraine-2 (FHM2; 602481) is an allelic disorder with some overlapping features.</p>
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<p>Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992). </p><p>The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009). </p><p><strong><em>Genetic Heterogeneity of Alternating Hemiplegia of Childhood</em></strong></p><p>
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See also AHC2 (614820), caused by mutation in the ATP1A3 gene (182350).</p>
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<p>Mikati et al. (1992) reported what appeared to be the first instance of familial occurrence of alternating hemiplegia of childhood. Inheritance appeared to be autosomal dominant. The proband, a 9-year-old boy, presented with developmental retardation, rare tonic-clonic seizures and frequent episodes of flaccid alternating hemiplegia that had been presumed to represent postictal paralysis. The hemiplegia spells, which started in his first year, did not respond to multiple antiepileptics. Between attacks, there was choreoathetosis and dystonic posturing. A brother, the father, a paternal uncle, and the maternal grandmother had similar histories of alternating hemiplegia. Investigations included negative CT and metabolic studies. EEG and SPECT scanning failed to reveal any significant slowing or major changes in cortical perfusion during hemiplegia as compared with nonhemiplegic periods. The karyotype demonstrated a balanced reciprocal translocation, 46,XY,t(3;9)(p26;q34) in the patient, in all the affected living relatives, and in 1 apparently unaffected sib. The asymptomatic mother had a normal karyotype. Both affected sibs were treated with and responded to flunarizine, a calcium-entry blocker, with a greater than 70% decrease in attack frequency. </p><p>Among a group of 22 presumably unrelated patients with alternating hemiplegia of childhood, Bourgeois et al. (1993) described onset before 18 months of age, repeated episodes of hemiplegia lasting from a few minutes to several days, the occurrence of tonic or dystonic attacks, nystagmus, dyspnea, cognitive impairment, and choreoathetosis. All of the patients also had episodes of quadriplegia that occurred either when a hemiplegia was shifting from one side to the other or as an isolated phenomenon. Six patients also had epileptic seizures, but Bourgeois et al. (1993) considered the 2 disorders to be distinct. Treatment with flunarizine was partially effective. </p><p>Kramer et al. (2000) reported 2 half sisters with alternating hemiplegia of childhood who had the same mother and different fathers. The authors ruled out mitochondrial abnormalities and suggested autosomal dominant inheritance. </p><p>Kanavakis et al. (2003) reported a family with alternating hemiplegia of childhood inherited in an autosomal dominant pattern. The proband was a 9-year-old boy with mental retardation, tonic-clonic seizures, dystonic attacks, and episodes of alternating hemiplegia starting at age 2.5 years. His mother, 3 brothers, and maternal uncle had similar symptoms. Other clinical features included autonomic changes in affected limbs and abnormal extraocular movements. Brain imaging, cytogenetic analysis, and mitochondrial DNA analysis were normal. Headache was not a feature. Flunarizine treatment reduced the severity of episodes. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Sampedro Castaneda et al. (2018) reported a 9-year-old Brazilian boy with episodic flaccid muscle weakness. At age 2 months, he showed absence seizures that evolved to status epilepticus, but were eventually controlled with medication with difficulty. He had global developmental delay: he walked just before 3 years of age and had speech delay and learning difficulties. At age 2 years, he developed tetraparesis and dysphagia associated with a respiratory tract infection. The episodes, which were bilateral, continued, lasting hours to days. Laboratory studies during the episodes showed increased serum creatine kinase and low serum potassium. Electrophysiologic studies showed reduced compound muscle action potentials (CMAPs), suggesting peripheral impairment of neuromuscular function. The symptoms improved with potassium, but worsened with acetazolamide. There was no family history of a similar disorder. Sampedro Castaneda et al. (2018) noted the phenotypic similarities to hypokalemic periodic paralysis (see 170400) but with additional central nervous system involvement, thus expanding the phenotypic spectrum of ATP1A2 mutations. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of AHC1 in the family reported by Kanavakis et al. (2003) and Swoboda et al. (2004) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of the family reported by Kanavakis et al. (2003), Swoboda et al. (2004) identified a thr378-to-asn mutation in the ATP1A2 gene (T378N; 182340.0005). Mutation analysis in 8 sporadic patients and affected subjects from 5 additional kindreds with alternating hemiplegia of childhood did not identify additional mutations in the ATP1A2 gene. </p><p>In 4 affected members of a Greek family with alternating hemiplegia of childhood, Bassi et al. (2004) identified the T378N mutation in the ATP1A2 gene. Mutation analysis of the ATP1A2 gene in 10 sporadic patients was negative. </p><p>In a 9-year-old Brazilian boy with episodic flaccid muscle weakness that was responsive to potassium supplementation, Sampedro Castaneda et al. (2018) identified a de novo heterozygous S779N variant (182340.0023) in the highly conserved K+ binding site of the enzyme. The mutation, which was found by Sanger sequencing, was not present in the gnomAD database. In vitro electrophysiologic studies in Xenopus oocytes showed that the mutation caused a 'leaky' inward current in the mutant pump in the presence of both high and low K+ concentrations, as well as altered Na+/K+ turnover activity rates of the pump. The voltage dependence of transient currents was left-shifted in mutant pumps. These changes were predicted to underlie abnormal membrane depolarization, resulting in muscle inexcitability leading to paralysis. </p>
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<strong>REFERENCES</strong>
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Bassi, M. T., Bresolin, N., Tonelli, A., Nazos, K., Crippa, F., Baschirotto, C., Zucca, C., Bersano, A., Dolcetta, D., Boneschi, F. M., Barone, V., Casari, G.
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<strong>A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.</strong>
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J. Med. Genet. 41: 621-628, 2004.
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[PubMed: 15286158]
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[Full Text: https://doi.org/10.1136/jmg.2003.017863]
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Bourgeois, M., Aicardi, J., Goutieres, F.
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<strong>Alternating hemiplegia of childhood.</strong>
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J. Pediat. 122: 673-679, 1993.
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[PubMed: 8496742]
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[Full Text: https://doi.org/10.1016/s0022-3476(06)80003-x]
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Kanavakis, E., Xaidara, A., Papathanasiou-Klontza, D., Papadimitiou, A., Velentza, A., Youroukos, S.
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<strong>Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.</strong>
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Dev. Med. Child Neurol. 45: 833-836, 2003. Note: Erratum: Dev. Med. Child Neurol. 46: 288 only, 2004.
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[PubMed: 14667076]
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[Full Text: https://doi.org/10.1017/s0012162203001543]
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Kramer, U., Nevo, Y., Margalit, D., Shorer, Z., Harel, S.
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<strong>Alternating hemiplegia of childhood in half-sisters.</strong>
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J. Child Neurol. 15: 128-130, 2000.
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[PubMed: 10695898]
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[Full Text: https://doi.org/10.1177/088307380001500212]
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Mikati, M. A., Maguire, H., Barlow, C. F., Ozelius, L., Breakefield, X. O., Klauck, S. M., Korf, B., O'Tuama, S. L. A., Dangond, F.
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<strong>A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.</strong>
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Neurology 42: 2251-2257, 1992.
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[PubMed: 1361034]
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[Full Text: https://doi.org/10.1212/wnl.42.12.2251]
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Rotstein, M., Doran, J., Yang, H., Ullner, P. M., Engelstad, K., De Vivo, D. C.
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<strong>GLUT1 deficiency and alternating hemiplegia of childhood.</strong>
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Neurology 73: 2042-2044, 2009.
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[PubMed: 19996082]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181c55ebf]
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Sampedro Castaneda, M., Zanoteli, E., Scalco, R. S., Scaramuzzi, V., Marques Caldas, V., Conti Reed, U., da Silva, A. M. S., O'Callaghan, B., Phadke, R., Bugiardini, E., Sud, R., McCall, S., Hanna, M. G., Poulsen, H., Mannikko, R., Matthews, E.
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<strong>A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.</strong>
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Brain 141: 3308-3318, 2018.
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[PubMed: 30423015]
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[Full Text: https://doi.org/10.1093/brain/awy283]
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Swoboda, K. J., Kanavakis, E., Xaidara, A., Johnson, J. E., Leppert, M. F., Schlesinger-Massart, M. B., Ptacek, L. J., Silver, K., Youroukos, S.
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<strong>Alternating hemiplegia of childhood or familial hemiplegic migraine?: a novel ATP1A2 mutation.</strong>
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Ann. Neurol. 55: 884-887, 2004.
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[PubMed: 15174025]
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[Full Text: https://doi.org/10.1002/ana.20134]
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Cassandra L. Kniffin - updated : 11/05/2021<br>Cassandra L. Kniffin - updated : 1/24/2011<br>Marla J. F. O'Neill - updated : 11/3/2004<br>Cassandra L. Kniffin - updated : 8/4/2004
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Victor A. McKusick : 3/16/1994
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