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<meta name="keywords" content="C1720416, acetazolamide-responsive episodic ataxia syndrome, acetazolamide-responsive hereditary paroxysmal cerebellar ataxia, acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia, apca, ataxia, episodic, with nystagmus, ataxia, familial paroxysmal, ataxia, familial, paroxysmal, cacna1a, cacna1a hereditary episodic ataxia, capa, cerebellar ataxia, paroxysmal, acetazolamide-responsive, cerebellopathy, hereditary paroxysmal, disease or syndrome, ea2, episodic ataxia type 2, episodic ataxia type 2 (ea2), episodic ataxia with nystagmus, episodic ataxia, nystagmus-associated, episodic ataxia, type 2, familial paroxysmal ataxia, hereditary episodic ataxia caused by mutation in cacna1a, nystagmus-associated episodic ataxia, 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="Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=314039
|
||
ConceptID=C1720416
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1138/bin/ataxias-Image001.gif" src-large="/books/NBK1138/bin/ataxias-Image001.jpg" /></a><br /><a href="/books/NBK1138/figure/ataxias.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Episodic ataxia type 2<span class="h1sub">(EA2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314039</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.">C1720416</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>Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, familial, paroxysmal; CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CEREBELLOPATHY, HEREDITARY PAROXYSMAL; EA2; Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Episodic ataxia type 2 (420932006); Episodic ataxia type 2 (EA2) (420932006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="CACNA1A - ID: 773 - NCBI Gene" href="/gene/773" class="medgenPMinfo">CACNA1A</a> (19p13.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007163" target="_blank">MONDO:0007163</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/108500" target="_blank">108500</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97">ORPHA97</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>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Some children with episodic ataxia have delayed development of speech or motor skills, such as standing and walking. They may also have learning difficulties.<br /><br />Researchers have identified at least 11 types of episodic ataxia, distinguished by their pattern of signs and symptoms, age of onset, length of episodes, and genetic cause.<br /><br />Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as stress, caffeine, alcohol, certain medications, physical activity, and illness. The duration of episodes may vary from seconds to days, and the frequency ranges from several episodes per day to one or two every few months. Between episodes, affected individuals may have no signs or symptoms. However, some continue to experience ataxia, which may worsen over time.<br /><br />Additionally, a muscle abnormality called myokymia or an eye abnormality called nystagmus can occur during or between episodes. Myokymia causes muscle cramping; stiffness; or continuous, fine muscle twitching that appears as rippling under the skin. Nystagmus refers to rapid, involuntary eye movements.<br /><br />Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement and coordination. People with episodic ataxia have episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraines, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis that affect one side of the body (hemiplegia) may also occur during these episodes. <a target="_blank" href="https://medlineplus.gov/genetics/condition/episodic-ataxia">https://medlineplus.gov/genetics/condition/episodic-ataxia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_52760"><div><strong>Tinnitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52760</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.">C0040264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52760">Feature record</a> | <a href="/medgen?term=%22Tinnitus%22%5BClinical%20Features%5D%20OR%2052760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_53006"><div><strong>Vertigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>53006</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.">C0042571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal sensation of spinning while the body is actually stationary.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/53006">Feature record</a> | <a href="/medgen?term=%22Vertigo%22%5BClinical%20Features%5D%20OR%2053006%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334848"><div><strong>Abnormal vestibular function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334848</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.">C1843865</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the functioning of the vestibular apparatus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334848">Feature record</a> | <a href="/medgen?term=%22Abnormal%20vestibular%20function%22%5BClinical%20Features%5D%20OR%20334848%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_14619"><div><strong>Paresthesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14619</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.">C0030554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14619">Feature record</a> | <a href="/medgen?term=%22Paresthesia%22%5BClinical%20Features%5D%20OR%2014619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</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.">C0149931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140727"><div><strong>Progressive cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140727</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.">C0393525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140727">Feature record</a> | <a href="/medgen?term=%22Progressive%20cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20140727%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_149271"><div><strong>Cerebellar vermis atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>149271</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.">C0742028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wasting (atrophy) of the vermis of cerebellum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/149271">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20vermis%20atrophy%22%5BClinical%20Features%5D%20OR%20149271%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_314033"><div><strong>Hereditary episodic ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314033</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.">C1720189</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314033">Feature record</a> | <a href="/medgen?term=%22Hereditary%20episodic%20ataxia%22%5BClinical%20Features%5D%20OR%20314033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_675119"><div><strong>Myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675119</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.">C0700153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675119">Feature record</a> | <a href="/medgen?term=%22Myotonia%22%5BClinical%20Features%5D%20OR%20675119%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41600"><div><strong>Diplopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41600</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.">C0012569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41600">Feature record</a> | <a href="/medgen?term=%22Diplopia%22%5BClinical%20Features%5D%20OR%2041600%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154401"><div><strong>Downbeat nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154401</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.">C0585544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154401">Feature record</a> | <a href="/medgen?term=%22Downbeat%20nystagmus%22%5BClinical%20Features%5D%20OR%20154401%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373096"><div><strong>Saccadic smooth pursuit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373096</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.">C1836479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373096">Feature record</a> | <a href="/medgen?term=%22Saccadic%20smooth%20pursuit%22%5BClinical%20Features%5D%20OR%20373096%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1808161"><div><strong>Gaze-evoked nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808161</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.">C5574666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nystagmus made apparent by looking to the right or to the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808161">Feature record</a> | <a href="/medgen?term=%22Gaze-evoked%20nystagmus%22%5BClinical%20Features%5D%20OR%201808161%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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diplopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downbeat nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1808161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaze-evoked nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saccadic smooth pursuit</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_149271" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar vermis atrophy</a></span></li><li class="TLline">
|
||
<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">
|
||
<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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_314033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary episodic ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paresthesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive cerebellar ataxia</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal vestibular function</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tinnitus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_53006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertigo</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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><li><a href="#tabORDO">Orphanet</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=C1720189[DISCUI]&test_type=Clinical" ref="ncbi_uid=314033">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=314033" ref="ncbi_uid=314033">V</a></span></span><span class="TLline"><a href="/medgen/314033" ref="tree=GTR&ncbi_uid=314033&link_uid=314033" title="View MedGen record for 'Hereditary episodic ataxia'">Hereditary episodic ataxia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1719788[DISCUI]&test_type=Clinical" ref="ncbi_uid=318554">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318554" target="_blank" href="/omim/160120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK25442)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=318554">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318554" ref="ncbi_uid=318554">V</a></span></span><span class="TLline"><a href="/medgen/318554" ref="tree=GTR&ncbi_uid=318554&link_uid=318554" title="View MedGen record for 'Episodic ataxia type 1'">Episodic ataxia type 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1720416[DISCUI]&test_type=Clinical" ref="ncbi_uid=314039">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=314039" target="_blank" href="/omim/108500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=314039">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=314039" ref="ncbi_uid=314039">V</a></span></span><span class="TLline">Episodic ataxia type 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376220" target="_blank" href="/omim/606554">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=376220">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376220" ref="tree=GTR&ncbi_uid=376220&link_uid=376220" title="View MedGen record for 'Episodic ataxia type 3'">Episodic ataxia type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376222" target="_blank" href="/omim/606552">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=376222">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376222" ref="tree=GTR&ncbi_uid=376222&link_uid=376222" title="View MedGen record for 'Episodic ataxia type 4'">Episodic ataxia type 4</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=C1866039[DISCUI]&test_type=Clinical" ref="ncbi_uid=356142">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356142" target="_blank" href="/omim/601949">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=356142">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356142" ref="ncbi_uid=356142">V</a></span></span><span class="TLline"><a href="/medgen/356142" ref="tree=GTR&ncbi_uid=356142&link_uid=356142" title="View MedGen record for 'Episodic ataxia type 5'">Episodic ataxia type 5</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=C2675211[DISCUI]&test_type=Clinical" ref="ncbi_uid=390739">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390739" target="_blank" href="/omim/600111">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=390739">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390739" ref="ncbi_uid=390739">V</a></span></span><span class="TLline"><a href="/medgen/390739" ref="tree=GTR&ncbi_uid=390739&link_uid=390739" title="View MedGen record for 'Episodic ataxia type 6'">Episodic ataxia type 6</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=C2677843[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=383209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383209" target="_blank" href="/omim/611907">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/383209" ref="tree=GTR&ncbi_uid=383209&link_uid=383209" title="View MedGen record for 'Episodic ataxia type 7'">Episodic ataxia type 7</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/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/868939" ref="tree=MeSH" title="MedGen record for Abnormality of coordination">Abnormality of coordination</a></span><ul><li><span class="TLline"><a href="/medgen/849" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia">Cerebellar ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/314033" ref="tree=MeSH" title="MedGen record for Hereditary episodic ataxia">Hereditary episodic ataxia</a></span><ul><li><span class="matched_ds">Episodic ataxia type 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=264&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Episodic ataxia type 2</span> in Orphanet.</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/35015204">Update on diagnosis and differential diagnosis of vestibular migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen Y,
|
||
Qi X</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Mar;43(3):1659-1666.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1007/s10072-022-05872-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35015204" target="_blank">35015204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29440566">Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zesiewicz TA,
|
||
Wilmot G,
|
||
Kuo SH,
|
||
Perlman S,
|
||
Greenstein PE,
|
||
Ying SH,
|
||
Ashizawa T,
|
||
Subramony SH,
|
||
Schmahmann JD,
|
||
Figueroa KP,
|
||
Mizusawa H,
|
||
Schöls L,
|
||
Shaw JD,
|
||
Dubinsky RM,
|
||
Armstrong MJ,
|
||
Gronseth GS,
|
||
Sullivan KL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Mar 6;90(10):464-471.
|
||
Epub 2018 Feb 9
|
||
doi: 10.1212/WNL.0000000000005055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29440566" target="_blank">29440566</a><a href="/pmc/articles/PMC5863491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29282702">Treatment of dizziness: an interdisciplinary update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiegel R,
|
||
Rust H,
|
||
Baumann T,
|
||
Friedrich H,
|
||
Sutter R,
|
||
Göldlin M,
|
||
Rosin C,
|
||
Müri R,
|
||
Mantokoudis G,
|
||
Bingisser R,
|
||
Strupp M,
|
||
Kalla R</span><br />
|
||
<span class="medgenPMjournal">Swiss Med Wkly</span>
|
||
2017;147:w14566.
|
||
Epub 2017 Dec 27
|
||
doi: 10.4414/smw.2017.14566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29282702" target="_blank">29282702</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22episodic%20ataxia%20type%202%22%5Btiab%3A~0%5D)%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 (10)</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/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
|
||
Manto M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2022 Feb 1;35(1):118-125.
|
||
doi: 10.1097/WCO.0000000000001015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32002650">The neurological update: therapies for cerebellar ataxias in 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gandini J,
|
||
Manto M,
|
||
Bremova-Ertl T,
|
||
Feil K,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2020 Apr;267(4):1211-1220.
|
||
Epub 2020 Jan 30
|
||
doi: 10.1007/s00415-020-09717-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32002650" target="_blank">32002650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25903394">Pharmacotherapy of vestibular and cerebellar disorders and downbeat nystagmus: translational and back-translational research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Zwergal A,
|
||
Feil K,
|
||
Bremova T,
|
||
Brandt T</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2015 Apr;1343:27-36.
|
||
doi: 10.1111/nyas.12774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25903394" target="_blank">25903394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24057832">Pharmacotherapy of vestibular disorders and nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Kremmyda O,
|
||
Brandt T</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2013 Jul;33(3):286-96.
|
||
Epub 2013 Sep 21
|
||
doi: 10.1055/s-0033-1354594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24057832" target="_blank">24057832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11216900">Inherited ion channel disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Surtees R</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2000 Dec;159 Suppl 3:S199-203.
|
||
doi: 10.1007/pl00014403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11216900" target="_blank">11216900</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36307210">Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nielsen EN,
|
||
Ásbjörnsdóttir B,
|
||
Møller LB,
|
||
Nielsen JE,
|
||
Lindquist SG</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2022 Oct;8(6)
|
||
Epub 2022 Oct 28
|
||
doi: 10.1101/mcs.a006236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36307210" target="_blank">36307210</a><a href="/pmc/articles/PMC9632360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
|
||
Manto M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2022 Feb 1;35(1):118-125.
|
||
doi: 10.1097/WCO.0000000000001015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34806130">The complexities of CACNA1A in clinical neurogenetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hommersom MP,
|
||
van Prooije TH,
|
||
Pennings M,
|
||
Schouten MI,
|
||
van Bokhoven H,
|
||
Kamsteeg EJ,
|
||
van de Warrenburg BPC</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 Jun;269(6):3094-3108.
|
||
Epub 2021 Nov 22
|
||
doi: 10.1007/s00415-021-10897-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34806130" target="_blank">34806130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33350965">Differentiating episodic ataxia type 2 from migraine: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu HJ,
|
||
Lau WL,
|
||
Chan TYC,
|
||
Chen SPL,
|
||
Ko CH</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2020 Dec;26(6):526-527.
|
||
doi: 10.12809/hkmj198306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33350965" target="_blank">33350965</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27272039">Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guterman EL,
|
||
Yurgionas B,
|
||
Nelson AB</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jun 7;86(23):e239-41.
|
||
doi: 10.1212/WNL.0000000000002743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27272039" target="_blank">27272039</a><a href="/pmc/articles/PMC4898315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%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 (76)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
|
||
Manto M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2022 Feb 1;35(1):118-125.
|
||
doi: 10.1097/WCO.0000000000001015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32002650">The neurological update: therapies for cerebellar ataxias in 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gandini J,
|
||
Manto M,
|
||
Bremova-Ertl T,
|
||
Feil K,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2020 Apr;267(4):1211-1220.
|
||
Epub 2020 Jan 30
|
||
doi: 10.1007/s00415-020-09717-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32002650" target="_blank">32002650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30182858">Aminopyridines and Acetyl-DL-leucine: New Therapies in Cerebellar Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalla R,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">Curr Neuropharmacol</span>
|
||
2019;17(1):7-13.
|
||
doi: 10.2174/1570159X16666180905093535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30182858" target="_blank">30182858</a><a href="/pmc/articles/PMC6341500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26519380">Update on the Pharmacotherapy of Cerebellar Ataxia and Nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feil K,
|
||
Bremova T,
|
||
Muth C,
|
||
Schniepp R,
|
||
Teufel J,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2016 Feb;15(1):38-42.
|
||
doi: 10.1007/s12311-015-0733-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26519380" target="_blank">26519380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17395137">Episodic ataxia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Zwergal A,
|
||
Brandt T</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2007 Apr;4(2):267-73.
|
||
doi: 10.1016/j.nurt.2007.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17395137" target="_blank">17395137</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%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 (44)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
|
||
Fan X,
|
||
Shen Y,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Oct;102(4):288-295.
|
||
Epub 2022 Jun 26
|
||
doi: 10.1111/cge.14180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35722745" target="_blank">35722745</a><a href="/pmc/articles/PMC9458680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19527184">Medical treatment of vestibular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brandt T,
|
||
Zwergal A,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Pharmacother</span>
|
||
2009 Jul;10(10):1537-48.
|
||
doi: 10.1517/14656560902976879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19527184" target="_blank">19527184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17395137">Episodic ataxia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Zwergal A,
|
||
Brandt T</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2007 Apr;4(2):267-73.
|
||
doi: 10.1016/j.nurt.2007.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17395137" target="_blank">17395137</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14718690">Clinical spectrum of episodic ataxia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jen J,
|
||
Kim GW,
|
||
Baloh RW</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 Jan 13;62(1):17-22.
|
||
doi: 10.1212/01.wnl.0000101675.61074.50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14718690" target="_blank">14718690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9371902">Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geschwind DH,
|
||
Perlman S,
|
||
Figueroa KP,
|
||
Karrim J,
|
||
Baloh RW,
|
||
Pulst SM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1997 Nov;49(5):1247-51.
|
||
doi: 10.1212/wnl.49.5.1247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9371902" target="_blank">9371902</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
|
||
Fan X,
|
||
Shen Y,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Oct;102(4):288-295.
|
||
Epub 2022 Jun 26
|
||
doi: 10.1111/cge.14180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35722745" target="_blank">35722745</a><a href="/pmc/articles/PMC9458680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34845147">Pharmacotherapy of cerebellar and vestibular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemos J,
|
||
Manto M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2022 Feb 1;35(1):118-125.
|
||
doi: 10.1097/WCO.0000000000001015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845147" target="_blank">34845147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26519380">Update on the Pharmacotherapy of Cerebellar Ataxia and Nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feil K,
|
||
Bremova T,
|
||
Muth C,
|
||
Schniepp R,
|
||
Teufel J,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2016 Feb;15(1):38-42.
|
||
doi: 10.1007/s12311-015-0733-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26519380" target="_blank">26519380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17578530">The cerebellum and migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent M,
|
||
Hadjikhani N</span><br />
|
||
<span class="medgenPMjournal">Headache</span>
|
||
2007 Jun;47(6):820-33.
|
||
doi: 10.1111/j.1526-4610.2006.00715.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17578530" target="_blank">17578530</a><a href="/pmc/articles/PMC3761082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17395137">Episodic ataxia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Zwergal A,
|
||
Brandt T</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2007 Apr;4(2):267-73.
|
||
doi: 10.1016/j.nurt.2007.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17395137" target="_blank">17395137</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%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 (42)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/29440566">Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zesiewicz TA,
|
||
Wilmot G,
|
||
Kuo SH,
|
||
Perlman S,
|
||
Greenstein PE,
|
||
Ying SH,
|
||
Ashizawa T,
|
||
Subramony SH,
|
||
Schmahmann JD,
|
||
Figueroa KP,
|
||
Mizusawa H,
|
||
Schöls L,
|
||
Shaw JD,
|
||
Dubinsky RM,
|
||
Armstrong MJ,
|
||
Gronseth GS,
|
||
Sullivan KL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Mar 6;90(10):464-471.
|
||
Epub 2018 Feb 9
|
||
doi: 10.1212/WNL.0000000000005055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29440566" target="_blank">29440566</a><a href="/pmc/articles/PMC5863491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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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_content ln"><ul id="my-toc"></ul></div>
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|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1720416%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C1720416%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1720416%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1720416%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (49)</a></li>
|
||
<li><a href="/gtr/tests?term=C1720416%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1720416%5bDISCUI%5d" target="_blank">See all (57)</a></total></li>
|
||
</ul></div>
|
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</div>
|
||
|
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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=108500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=97" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Episodic%20ataxia%20type%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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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=(%22episodic%20ataxia%20type%202%22%5Btiab%3A~0%5D)%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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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601011" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=773[geneid]" target="_blank">View CACNA1A variations in ClinVar</a></li><li><a href="/nuccore/224922780" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=108500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" 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.malacards.org/card/episodic_ataxia_type_2_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Episodic%20ataxia%20type%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/episodic-ataxia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9602/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
|
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<li>
|
||
<a href="/pubmed/20301317" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Episodic%20ataxia%20type%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
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<a href="/pubmed?term=Episodic%20ataxia%20type%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3dc1067c23b31e0b654de">Episodic ataxia type 2</a>
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<div class="tertiary">MedGen</div>
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<div class="ralinkpop offscreen_noflow">Hereditary episodic ataxia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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