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<meta name="keywords" content="C3553788, ahc2, alternating hemiplegia of childhood (ahc), alternating hemiplegia of childhood 2, alternating hemiplegia of childhood caused by mutation in atp1a3, alternating hemiplegia of childhood type 2, atp1a3, atp1a3 alternating hemiplegia of childhood, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA) / fever-induced paroxysmal weakness and encephalopathy (FIPWE); and rapid-onset dystonia-parkinsonism (RDP). These phenotypes exist on a spectrum and should be regarded as classifications of convenience. AHC is characterized by onset prior to age 18 months of paroxysmal hemiplegic episodes, predominately involving the limbs and/or the whole body, lasting from minutes to hours to days (and sometimes weeks) with remission only during sleep, only to resume after awakening. Although paroxysmal episodic neurologic dysfunction predominates early in the disease course, with age increasingly persistent neurologic dysfunction predominates, including oculomotor apraxia and strabismus, dysarthria, speech and language delay, developmental delay, and impairment in social skills. Other system involvement may include cardiovascular (cardiac conduction abnormalities) and gastrointestinal (constipation, vomiting, anorexia, diarrhea, nausea, and abdominal pain) manifestations. CAPOS syndrome presents in infancy or childhood (usually ages 6 months to 5 years) with cerebellar ataxia during or after a fever. The acute febrile encephalopathy may include hypotonia, flaccidity, nystagmus, strabismus, dysarthria/anarthria, lethargy, loss of consciousness, and even coma. Usually, considerable recovery occurs within days to weeks; however, persistence of some degree of ataxia and other manifestations is typical. RECA/FIPWE primarily presents with fever-induced episodes (infancy to age 5 years); however, first episodes can occur occasionally in young adults during illnesses such as mononucleosis. Recurrent fever-induced episodes may be ataxia-dominated RECA-like motor manifestations or FIPWE-like non-motor manifestations (encephalopathy) and can vary among affected individuals. Notably, RECA-like and FIPWE-like manifestations can occur in the same individual in different episodes. In some individuals episodes seem to decrease in frequency and severity over time, whereas others might experience worsening of manifestations. RDP presents in individuals ages 18 months to 60 years and older with dystonia that is typically of abrupt onset over hours to several weeks, though some individuals report gradual onset over the course of months. A stress-related trigger is identifiable in up to 75% of individuals. Dystonia rarely improves significantly after onset; some individuals report mild improvement over time, whereas others can experience subsequent episodes of abrupt worsening months to years after onset. Limbs are usually the first to be affected, although by the time of diagnosis – typically many years after onset – individuals most commonly display a bulbar-predominant generalized dystonia. Exceptions are common and a rostrocaudal gradient is rare rather than typical. Migraines and seizures are also observed." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=766702
|
||
ConceptID=C3553788
|
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-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1115/bin/rapid-odp-Image001.gif" src-large="/books/NBK1115/bin/rapid-odp-Image001.jpg" /></a><br /><a href="/books/NBK1115/figure/rapid-odp.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1115/bin/rapid-odp-Image002.gif" src-large="/books/NBK1115/bin/rapid-odp-Image002.jpg" /></a><br /><a href="/books/NBK1115/figure/rapid-odp.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Alternating hemiplegia of childhood 2<span class="h1sub">(AHC2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766702</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3553788</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AHC2; Alternating Hemiplegia of Childhood (AHC)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ATP1A3 - ID: 478 - NCBI Gene" href="/gene/478" class="medgenPMinfo">ATP1A3</a> (19q13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013900" target="_blank">MONDO:0013900</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614820" target="_blank">614820</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1115" target="_blank">ATP1A3-Related Disorder</a></div><div>ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA) / fever-induced paroxysmal weakness and encephalopathy (FIPWE); and rapid-onset dystonia-parkinsonism (RDP). These phenotypes exist on a spectrum and should be regarded as classifications of convenience. AHC is characterized by onset prior to age 18 months of paroxysmal hemiplegic episodes, predominately involving the limbs and/or the whole body, lasting from minutes to hours to days (and sometimes weeks) with remission only during sleep, only to resume after awakening. Although paroxysmal episodic neurologic dysfunction predominates early in the disease course, with age increasingly persistent neurologic dysfunction predominates, including oculomotor apraxia and strabismus, dysarthria, speech and language delay, developmental delay, and impairment in social skills. Other system involvement may include cardiovascular (cardiac conduction abnormalities) and gastrointestinal (constipation, vomiting, anorexia, diarrhea, nausea, and abdominal pain) manifestations. CAPOS syndrome presents in infancy or childhood (usually ages 6 months to 5 years) with cerebellar ataxia during or after a fever. The acute febrile encephalopathy may include hypotonia, flaccidity, nystagmus, strabismus, dysarthria/anarthria, lethargy, loss of consciousness, and even coma. Usually, considerable recovery occurs within days to weeks; however, persistence of some degree of ataxia and other manifestations is typical. RECA/FIPWE primarily presents with fever-induced episodes (infancy to age 5 years); however, first episodes can occur occasionally in young adults during illnesses such as mononucleosis. Recurrent fever-induced episodes may be ataxia-dominated RECA-like motor manifestations or FIPWE-like non-motor manifestations (encephalopathy) and can vary among affected individuals. Notably, RECA-like and FIPWE-like manifestations can occur in the same individual in different episodes. In some individuals episodes seem to decrease in frequency and severity over time, whereas others might experience worsening of manifestations. RDP presents in individuals ages 18 months to 60 years and older with dystonia that is typically of abrupt onset over hours to several weeks, though some individuals report gradual onset over the course of months. A stress-related trigger is identifiable in up to 75% of individuals. Dystonia rarely improves significantly after onset; some individuals report mild improvement over time, whereas others can experience subsequent episodes of abrupt worsening months to years after onset. Limbs are usually the first to be affected, although by the time of diagnosis – typically many years after onset – individuals most commonly display a bulbar-predominant generalized dystonia. Exceptions are common and a rostrocaudal gradient is rare rather than typical. Migraines and seizures are also observed. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Summary" target="NBK1115">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.GeneReview_Scope" target="NBK1115">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Diagnosis" target="NBK1115">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Clinical_Characteristics" target="NBK1115">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Genetically_Related_Allelic_Di" target="NBK1115">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Differential_Diagnosis" target="NBK1115">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Management" target="NBK1115">Management</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Genetic_Counseling" target="NBK1115">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Resources" target="NBK1115">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Molecular_Genetics" target="NBK1115">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.Chapter_Notes" target="NBK1115">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1115#rapid-odp.References" target="NBK1115">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Allison Brashear | Kathleen J Sweadner | Ihtsham Haq<i>, et. al.</i> <a href="/books/NBK1115" target="NBK1115" title="NCBI Bookshelf: ATP1A3-Related Disorder">view full author information</a></div></div>
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||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).
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For a discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (104290). <a target="_blank" href="http://www.omim.org/entry/614820">http://www.omim.org/entry/614820</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Alternating hemiplegia of childhood also causes mild to severe cognitive problems. Almost all affected individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time.<br /><br />The episodes of hemiplegia or uncontrolled movements can be triggered by certain factors, such as stress, extreme tiredness, cold temperatures, or bathing, although the trigger is not always known. A characteristic feature of alternating hemiplegia of childhood is that all symptoms disappear while the affected person is sleeping but can reappear shortly after awakening. The number and length of the episodes initially worsen throughout childhood but then begin to decrease over time. The uncontrollable muscle movements may disappear entirely, but the episodes of hemiplegia occur throughout life.<br /><br />In addition to paralysis, affected individuals can have sudden attacks of uncontrollable muscle activity; these can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of breath (dyspnea). People with alternating hemiplegia of childhood may also experience sudden redness and warmth (flushing) or unusual paleness (pallor) of the skin. These attacks can occur during or separately from episodes of hemiplegia.<br /><br />Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days. <a target="_blank" href="https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood">https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_9196"><div><strong>Hemiplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9196</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9196">Feature record</a> | <a href="/medgen?term=%22Hemiplegia%22%5BClinical%20Features%5D%20OR%209196%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_19617"><div><strong>Tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19617</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/19617">Feature record</a> | <a href="/medgen?term=%22Tetraplegia%22%5BClinical%20Features%5D%20OR%2019617%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_39313"><div><strong>Choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39313</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/39313">Feature record</a> | <a href="/medgen?term=%22Choreoathetosis%22%5BClinical%20Features%5D%20OR%2039313%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_350829"><div><strong>Episodic quadriplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350829</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1863062</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Intermittent episodes of paralysis of all four limbs.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/350829">Feature record</a> | <a href="/medgen?term=%22Episodic%20quadriplegia%22%5BClinical%20Features%5D%20OR%20350829%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_99227"><div><strong>Abnormality of eye movement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99227</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0497202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality in voluntary or involuntary eye movements or their control.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/99227">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20eye%20movement%22%5BClinical%20Features%5D%20OR%2099227%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of eye movement</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choreoathetosis</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic quadriplegia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemiplegia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetraplegia</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN305087[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=987125">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1115/" ref="ncbi_uid=987125">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=987125" ref="ncbi_uid=987125">V</a></span></span><span class="TLline"><a href="/medgen/987125" ref="tree=GTR&ncbi_uid=987125&link_uid=987125" title="View MedGen record for 'ATP1A3-associated neurological disorder'">ATP1A3-associated neurological disorder</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553788[DISCUI]&test_type=Clinical" ref="ncbi_uid=766702">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766702" target="_blank" href="/omim/182350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1115/" ref="ncbi_uid=766702">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766702" ref="ncbi_uid=766702">V</a></span></span><span class="TLline">Alternating hemiplegia of childhood 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832466[DISCUI]&test_type=Clinical" ref="ncbi_uid=318633">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318633" target="_blank" href="/omim/182350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1115/" ref="ncbi_uid=318633">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318633" ref="ncbi_uid=318633">V</a></span></span><span class="TLline"><a href="/medgen/318633" ref="tree=GTR&ncbi_uid=318633&link_uid=318633" title="View MedGen record for 'Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome'">Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868681[DISCUI]&test_type=Clinical" ref="ncbi_uid=358384">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358384" target="_blank" href="/omim/128235">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1115%20OR%20NBK1155)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=358384">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358384" ref="ncbi_uid=358384">V</a></span></span><span class="TLline"><a href="/medgen/358384" ref="tree=GTR&ncbi_uid=358384&link_uid=358384" title="View MedGen record for 'Dystonia 12'">Dystonia 12</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/987125" ref="tree=MeSH" title="MedGen record for ATP1A3-associated neurological disorder">ATP1A3-associated neurological disorder</a></span><ul><li><span class="matched_ds">Alternating hemiplegia of childhood 2</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31959558">ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gasser M,
|
||
Boonsimma P,
|
||
Netbaramee W,
|
||
Wechapinan T,
|
||
Srichomthomg C,
|
||
Ittiwut C,
|
||
Krenn M,
|
||
Zimprich F,
|
||
Milenkovic I,
|
||
Abicht A,
|
||
Biskup S,
|
||
Roser T,
|
||
Shotelersuk V,
|
||
Tacke M,
|
||
Kuersten M,
|
||
Wagner M,
|
||
Borggraefe I,
|
||
Suphapeetiporn K,
|
||
von Stülpnagel C</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2020 Feb;72:31-38.
|
||
Epub 2020 Jan 17
|
||
doi: 10.1016/j.jocn.2020.01.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31959558" target="_blank">31959558</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25996915">Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viollet L,
|
||
Glusman G,
|
||
Murphy KJ,
|
||
Newcomb TM,
|
||
Reyna SP,
|
||
Sweney M,
|
||
Nelson B,
|
||
Andermann F,
|
||
Andermann E,
|
||
Acsadi G,
|
||
Barbano RL,
|
||
Brown C,
|
||
Brunkow ME,
|
||
Chugani HT,
|
||
Cheyette SR,
|
||
Collins A,
|
||
DeBrosse SD,
|
||
Galas D,
|
||
Friedman J,
|
||
Hood L,
|
||
Huff C,
|
||
Jorde LB,
|
||
King MD,
|
||
LaSalle B,
|
||
Leventer RJ,
|
||
Lewelt AJ,
|
||
Massart MB,
|
||
Mérida MR 2nd,
|
||
Ptáček LJ,
|
||
Roach JC,
|
||
Rust RS,
|
||
Renault F,
|
||
Sanger TD,
|
||
Sotero de Menezes MA,
|
||
Tennyson R,
|
||
Uldall P,
|
||
Zhang Y,
|
||
Zupanc M,
|
||
Xin W,
|
||
Silver K,
|
||
Swoboda KJ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2015;10(5):e0127045.
|
||
Epub 2015 May 21
|
||
doi: 10.1371/journal.pone.0127045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25996915" target="_blank">25996915</a><a href="/pmc/articles/PMC4440742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(alternating%20hemiplegia%20of%20childhood%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38367370">Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel S,
|
||
Maney K,
|
||
Morris L,
|
||
Papadopoulou MT,
|
||
Prange L,
|
||
Boggs A,
|
||
Hunanyan A,
|
||
Megvinov A,
|
||
Vavassori R,
|
||
Panagiotakaki E,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2024 Mar;49:55-59.
|
||
Epub 2024 Feb 12
|
||
doi: 10.1016/j.ejpn.2024.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38367370" target="_blank">38367370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38097767">Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panagiotakaki E,
|
||
Tiziano FD,
|
||
Mikati MA,
|
||
Vijfhuizen LS,
|
||
Nicole S,
|
||
Lesca G,
|
||
Abiusi E,
|
||
Novelli A,
|
||
Di Pietro L;
|
||
I.B.AHC Consortium;
|
||
IAHCRC Consortium,
|
||
Harder AVE,
|
||
Walley NM,
|
||
De Grandis E,
|
||
Poulat AL,
|
||
Portes VD,
|
||
Lépine A,
|
||
Nassogne MC,
|
||
Arzimanoglou A,
|
||
Vavassori R,
|
||
Koenderink J,
|
||
Thompson CH,
|
||
George AL Jr,
|
||
Gurrieri F,
|
||
van den Maagdenberg AMJM,
|
||
Heinzen EL</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Feb;32(2):224-231.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1038/s41431-023-01489-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38097767" target="_blank">38097767</a><a href="/pmc/articles/PMC10853263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36178910">Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poole J,
|
||
Zagaglia S,
|
||
Demurtas R,
|
||
Farrell F,
|
||
Walker MC,
|
||
Sisodiya SM,
|
||
Balestrini S,
|
||
Vivekananda U</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(9):e0268720.
|
||
Epub 2022 Sep 30
|
||
doi: 10.1371/journal.pone.0268720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36178910" target="_blank">36178910</a><a href="/pmc/articles/PMC9524638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35390560">Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parker LE,
|
||
Wallace K,
|
||
Thevathasan A,
|
||
Funk E,
|
||
Pratt M,
|
||
Thamby J,
|
||
Tran L,
|
||
Prange L,
|
||
Uchitel J,
|
||
Boggs A,
|
||
Minton M,
|
||
Jasien J,
|
||
Nagao KJ,
|
||
Richards A,
|
||
Cruse B,
|
||
De-Lisle Dear G,
|
||
Landstrom AP,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 May;38:47-52.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1016/j.ejpn.2022.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35390560" target="_blank">35390560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32031250">Social impairments in alternating hemiplegia of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uchitel J,
|
||
Abdelnour E,
|
||
Boggs A,
|
||
Prange L,
|
||
Pratt M,
|
||
Bonner M,
|
||
Jasien J,
|
||
Dawson G,
|
||
Abrahamsen T,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2020 Jul;62(7):820-826.
|
||
Epub 2020 Feb 7
|
||
doi: 10.1111/dmcn.14473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32031250" target="_blank">32031250</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alternating%20hemiplegia%20of%20childhood%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36192182">The Phenotypic Continuum of ATP1A3-Related Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vezyroglou A,
|
||
Akilapa R,
|
||
Barwick K,
|
||
Koene S,
|
||
Brownstein CA,
|
||
Holder-Espinasse M,
|
||
Fry AE,
|
||
Németh AH,
|
||
Tofaris GK,
|
||
Hay E,
|
||
Hughes I,
|
||
Mansour S,
|
||
Mordekar SR,
|
||
Splitt M,
|
||
Turnpenny PD,
|
||
Demetriou D,
|
||
Koopmann TT,
|
||
Ruivenkamp CAL,
|
||
Agrawal PB,
|
||
Carr L,
|
||
Clowes V,
|
||
Ghali N,
|
||
Holder SE,
|
||
Radley J,
|
||
Male A,
|
||
Sisodiya SM,
|
||
Kurian MA,
|
||
Cross JH,
|
||
Balasubramanian M</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Oct 4;99(14):e1511-e1526.
|
||
Epub 2022 Jul 18
|
||
doi: 10.1212/WNL.0000000000200927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36192182" target="_blank">36192182</a><a href="/pmc/articles/PMC9576304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36178910">Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poole J,
|
||
Zagaglia S,
|
||
Demurtas R,
|
||
Farrell F,
|
||
Walker MC,
|
||
Sisodiya SM,
|
||
Balestrini S,
|
||
Vivekananda U</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(9):e0268720.
|
||
Epub 2022 Sep 30
|
||
doi: 10.1371/journal.pone.0268720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36178910" target="_blank">36178910</a><a href="/pmc/articles/PMC9524638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35945798">Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavone P,
|
||
Pappalardo XG,
|
||
Ruggieri M,
|
||
Falsaperla R,
|
||
Parano E</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2022 Aug 5;101(31):e29413.
|
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<div class="nl"><a target="_blank" href="/pubmed/33733261">Alternating hemiplegia of childhood presenting as recurrent apnoea in a term newborn infant.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Koh NYT,
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Lim JYX,
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Kam S,
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<div class="nl"><a target="_blank" href="/pubmed/24821639">Alternating hemiplegia of childhood: new diagnostic options.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gergont A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alternating%20hemiplegia%20of%20childhood%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (45)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38367370">Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patel S,
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Maney K,
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2024 Mar;49:55-59.
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<div class="portlet_content ln"><span class="medgenPMauthor">Parker LE,
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Thevathasan A,
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<span class="bold">PMID: </span><a href="/pubmed/35390560" target="_blank">35390560</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33177352">Intravenous Immunoglobulin in the Treatment of Alternating Hemiplegia of Childhood.</a></div>
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2020 Feb;72:31-38.
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<span class="bold">PMID: </span><a href="/pubmed/31959558" target="_blank">31959558</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31484714">The epileptology of alternating hemiplegia of childhood.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uchitel J,
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Helseth A,
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Prange L,
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McLean M,
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Ghusayni R,
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Sachdev M,
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Hunanyan A,
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<span class="bold">PMID: </span><a href="/pubmed/31484714" target="_blank">31484714</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alternating%20hemiplegia%20of%20childhood%202%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37562161">Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sentmanat MK,
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Papadopoulou MT,
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Prange L,
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Huaynate JA,
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Stagnaro M,
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Megvinov A,
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Patel S;
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IAHCRC OBSERV-AHC Study Group,
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Arzimanoglou A,
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Vavassori R,
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Panagiotakaki E,
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<span class="bold">PMID: </span><a href="/pubmed/37562161" target="_blank">37562161</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36178910">Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Poole J,
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Zagaglia S,
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Demurtas R,
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Farrell F,
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<span class="bold">PMID: </span><a href="/pubmed/36178910" target="_blank">36178910</a><a href="/pmc/articles/PMC9524638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35945798">Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pavone P,
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Pappalardo XG,
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Ruggieri M,
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Falsaperla R,
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2022 Aug 5;101(31):e29413.
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doi: 10.1097/MD.0000000000029413.
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<span class="bold">PMID: </span><a href="/pubmed/35945798" target="_blank">35945798</a><a href="/pmc/articles/PMC9351909" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35714222">Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto Y,
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Poirier K,
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Boddaert N,
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Hubert L,
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Aubart M,
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<div class="nl"><a target="_blank" href="/pubmed/30194039">Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maas RPPWM,
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Kamsteeg EJ,
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Mangano S,
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Vázquez López ME,
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Nicolai J,
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Silver K,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alternating%20hemiplegia%20of%20childhood%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38367370">Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Patel S,
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Maney K,
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Morris L,
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Papadopoulou MT,
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Prange L,
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Boggs A,
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Hunanyan A,
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Megvinov A,
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Vavassori R,
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Panagiotakaki E,
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Mikati MA</span><br />
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2024 Mar;49:55-59.
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Epub 2024 Feb 12
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doi: 10.1016/j.ejpn.2024.02.004.
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<span class="bold">PMID: </span><a href="/pubmed/38367370" target="_blank">38367370</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/36192182">The Phenotypic Continuum of ATP1A3-Related Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vezyroglou A,
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Akilapa R,
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Barwick K,
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Fry AE,
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Németh AH,
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Tofaris GK,
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Hay E,
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Hughes I,
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Mansour S,
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Mordekar SR,
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Splitt M,
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Turnpenny PD,
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Demetriou D,
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Koopmann TT,
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Ruivenkamp CAL,
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Agrawal PB,
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Carr L,
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Clowes V,
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Sisodiya SM,
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Kurian MA,
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Cross JH,
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Balasubramanian M</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2022 Oct 4;99(14):e1511-e1526.
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Epub 2022 Jul 18
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doi: 10.1212/WNL.0000000000200927.
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<span class="bold">PMID: </span><a href="/pubmed/36192182" target="_blank">36192182</a><a href="/pmc/articles/PMC9576304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36178910">Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poole J,
|
||
Zagaglia S,
|
||
Demurtas R,
|
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Farrell F,
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||
Walker MC,
|
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Sisodiya SM,
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Balestrini S,
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Vivekananda U</span><br />
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<span class="medgenPMjournal">PLoS One</span>
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2022;17(9):e0268720.
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Epub 2022 Sep 30
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doi: 10.1371/journal.pone.0268720.
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<span class="bold">PMID: </span><a href="/pubmed/36178910" target="_blank">36178910</a><a href="/pmc/articles/PMC9524638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32031250">Social impairments in alternating hemiplegia of childhood.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Uchitel J,
|
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Abdelnour E,
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Boggs A,
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Prange L,
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Pratt M,
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Bonner M,
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Jasien J,
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Dawson G,
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<span class="bold">PMID: </span><a href="/pubmed/32031250" target="_blank">32031250</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31484714">The epileptology of alternating hemiplegia of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uchitel J,
|
||
Helseth A,
|
||
Prange L,
|
||
McLean M,
|
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Ghusayni R,
|
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Sachdev M,
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Hunanyan A,
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|
||
<span class="bold">PMID: </span><a href="/pubmed/31484714" target="_blank">31484714</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alternating%20hemiplegia%20of%20childhood%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (28)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3553788%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553788%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553788%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3553788%5bDISCUI%5d" target="_blank">See all (44)</a></total></li>
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</ul></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614820" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Alternating%20hemiplegia%20of%20childhood%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(alternating%20hemiplegia%20of%20childhood%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb46c2f4a390645efe643e">Alternating hemiplegia of childhood 2</a>
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