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<!--
|
||
UID=356142
|
||
ConceptID=C1866039
|
||
-->
|
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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 5<span class="h1sub">(EA5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356142</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.">C1866039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Episodic Ataxia, Type 5</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Episodic ataxia type 5 (718756005)</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="CACNB4 - ID: 785 - NCBI Gene" href="/gene/785" class="medgenPMinfo">CACNB4</a> (2q23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013464" target="_blank">MONDO:0013464</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613855" target="_blank">613855</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=211067">ORPHA211067</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_100">
|
||
<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">An extremely rare form of hereditary episodic ataxia with characteristics of recurrent episodes of vertigo and ataxia lasting several hours. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</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_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_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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_3232"><div><strong>Febrile seizure (within the age range of 3 months to 6 years)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3232</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.">C0009952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3232">Feature record</a> | <a href="/medgen?term=%22Febrile%20seizure%20(within%20the%20age%20range%20of%203%20months%20to%206%20years)%22%5BClinical%20Features%5D%20OR%203232%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_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96535"><div><strong>Truncal ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96535</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.">C0427190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96535">Feature record</a> | <a href="/medgen?term=%22Truncal%20ataxia%22%5BClinical%20Features%5D%20OR%2096535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108888"><div><strong>Atypical absence seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108888</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.">C0595948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108888">Feature record</a> | <a href="/medgen?term=%22Atypical%20absence%20seizure%22%5BClinical%20Features%5D%20OR%20108888%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_334529"><div><strong>Postural instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334529</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.">C1843921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334529">Feature record</a> | <a href="/medgen?term=%22Postural%20instability%22%5BClinical%20Features%5D%20OR%20334529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777018"><div><strong>EEG with generalized spikes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777018</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.">C2206531</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EEG with generalized sharp transient waves of a duration less than 80 msec.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777018">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20generalized%20spikes%22%5BClinical%20Features%5D%20OR%20777018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869259"><div><strong>EEG with spike-wave complexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869259</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.">C4023683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869259">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20spike-wave%20complexes%22%5BClinical%20Features%5D%20OR%20869259%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1790454"><div><strong>Typical absence seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790454</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.">C5551411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790454">Feature record</a> | <a href="/medgen?term=%22Typical%20absence%20seizure%22%5BClinical%20Features%5D%20OR%201790454%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_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></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_108888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical absence seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<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">
|
||
<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_777018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with generalized spikes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with spike-wave complexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</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_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Truncal ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Typical absence seizure</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_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="TLclosed"><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"><a href="/medgen/314039" ref="tree=GTR&ncbi_uid=314039&link_uid=314039" title="View MedGen record for 'Episodic ataxia type 2'">Episodic ataxia type 2</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=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="matched_ds"><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">Episodic ataxia type 5</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 5</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=18709&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Episodic ataxia type 5</span> in Orphanet.</div></div></div>
|
||
</div>
|
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|
||
<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/36640220">Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garces P,
|
||
Antoniades CA,
|
||
Sobanska A,
|
||
Kovacs N,
|
||
Ying SH,
|
||
Gupta AS,
|
||
Perlman S,
|
||
Szmulewicz DJ,
|
||
Pane C,
|
||
Németh AH,
|
||
Jardim LB,
|
||
Coarelli G,
|
||
Dankova M,
|
||
Traschütz A,
|
||
Tarnutzer AA</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Feb;23(1):121-135.
|
||
Epub 2023 Jan 14
|
||
doi: 10.1007/s12311-023-01514-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36640220" target="_blank">36640220</a><a href="/pmc/articles/PMC10864420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16208529">Diagnosis and management of acute movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dressler D,
|
||
Benecke R</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2005 Nov;252(11):1299-306.
|
||
Epub 2005 Oct 10
|
||
doi: 10.1007/s00415-005-0006-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16208529" target="_blank">16208529</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=(episodic%20ataxia%20type%205)%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 (3)</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/36794445">Three-dimensional-mapping-guided permanent conduction system pacing in paediatric patients with congenitally corrected transposition of the great arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silvetti MS,
|
||
Favoccia C,
|
||
Saputo FA,
|
||
Tamburri I,
|
||
Mizzon C,
|
||
Campisi M,
|
||
Gimigliano F,
|
||
Rinelli G,
|
||
Rava L,
|
||
Drago F</span><br />
|
||
<span class="medgenPMjournal">Europace</span>
|
||
2023 Apr 15;25(4):1482-1490.
|
||
doi: 10.1093/europace/euad026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36794445" target="_blank">36794445</a><a href="/pmc/articles/PMC10105887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35655106">Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graves TD,
|
||
Griggs RC,
|
||
Bundy BN,
|
||
Jen JC,
|
||
Baloh RW,
|
||
Hanna MG;
|
||
CINCH Investigators</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Aug;22(4):578-586.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1007/s12311-021-01360-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35655106" target="_blank">35655106</a><a href="/pmc/articles/PMC10307716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30552638">What Is Behind Cerebellar Vertigo and Dizziness?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feil K,
|
||
Strobl R,
|
||
Schindler A,
|
||
Krafczyk S,
|
||
Goldschagg N,
|
||
Frenzel C,
|
||
Glaser M,
|
||
Schöberl F,
|
||
Zwergal A,
|
||
Strupp M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2019 Jun;18(3):320-332.
|
||
doi: 10.1007/s12311-018-0992-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30552638" target="_blank">30552638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27733563">Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbett MA,
|
||
Bellows ST,
|
||
Li M,
|
||
Carroll R,
|
||
Micallef S,
|
||
Carvill GL,
|
||
Myers CT,
|
||
Howell KB,
|
||
Maljevic S,
|
||
Lerche H,
|
||
Gazina EV,
|
||
Mefford HC,
|
||
Bahlo M,
|
||
Berkovic SF,
|
||
Petrou S,
|
||
Scheffer IE,
|
||
Gecz J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Nov 8;87(19):1975-1984.
|
||
Epub 2016 Oct 12
|
||
doi: 10.1212/WNL.0000000000003309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27733563" target="_blank">27733563</a><a href="/pmc/articles/PMC5109949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21734179">A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Kalla R,
|
||
Claassen J,
|
||
Adrion C,
|
||
Mansmann U,
|
||
Klopstock T,
|
||
Freilinger T,
|
||
Neugebauer H,
|
||
Spiegel R,
|
||
Dichgans M,
|
||
Lehmann-Horn F,
|
||
Jurkat-Rott K,
|
||
Brandt T,
|
||
Jen JC,
|
||
Jahn K</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2011 Jul 19;77(3):269-75.
|
||
Epub 2011 Jul 6
|
||
doi: 10.1212/WNL.0b013e318225ab07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21734179" target="_blank">21734179</a><a href="/pmc/articles/PMC3136055" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%205%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35655106">Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graves TD,
|
||
Griggs RC,
|
||
Bundy BN,
|
||
Jen JC,
|
||
Baloh RW,
|
||
Hanna MG;
|
||
CINCH Investigators</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Aug;22(4):578-586.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1007/s12311-021-01360-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35655106" target="_blank">35655106</a><a href="/pmc/articles/PMC10307716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34894057">Further delineation of phenotypic spectrum of SCN2A-related disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson R,
|
||
Baralle D,
|
||
Bennett C,
|
||
Briggs T,
|
||
Bijlsma EK,
|
||
Clayton-Smith J,
|
||
Constantinou P,
|
||
Foulds N,
|
||
Jarvis J,
|
||
Jewell R,
|
||
Johnson DS,
|
||
McEntagart M,
|
||
Parker MJ,
|
||
Radley JA,
|
||
Robertson L,
|
||
Ruivenkamp C,
|
||
Rutten JW,
|
||
Tellez J,
|
||
Turnpenny PD,
|
||
Wilson V,
|
||
Wright M,
|
||
Balasubramanian M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Mar;188(3):867-877.
|
||
Epub 2021 Dec 11
|
||
doi: 10.1002/ajmg.a.62595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34894057" target="_blank">34894057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34709445">Vestibular impairments in episodic ataxia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi JH,
|
||
Oh EH,
|
||
Choi SY,
|
||
Kim HJ,
|
||
Lee SK,
|
||
Choi JY,
|
||
Kim JS,
|
||
Choi KD</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 May;269(5):2687-2695.
|
||
Epub 2021 Oct 28
|
||
doi: 10.1007/s00415-021-10856-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34709445" target="_blank">34709445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34292398">Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Michele G,
|
||
Galatolo D,
|
||
Galosi S,
|
||
Mignarri A,
|
||
Silvestri G,
|
||
Casali C,
|
||
Leuzzi V,
|
||
Ricca I,
|
||
Barghigiani M,
|
||
Tessa A,
|
||
Cioffi E,
|
||
Caputi C,
|
||
Riso V,
|
||
Dotti MT,
|
||
Saccà F,
|
||
De Michele G,
|
||
Cocozza S,
|
||
Filla A,
|
||
Santorelli FM</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 Mar;269(3):1476-1484.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1007/s00415-021-10712-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34292398" target="_blank">34292398</a><a href="/pmc/articles/PMC8857164" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23677664">Acetazolamide-responsive ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kotagal V</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2012 Nov;32(5):533-7.
|
||
Epub 2013 May 15
|
||
doi: 10.1055/s-0033-1334475.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23677664" target="_blank">23677664</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%205%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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/27733563">Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbett MA,
|
||
Bellows ST,
|
||
Li M,
|
||
Carroll R,
|
||
Micallef S,
|
||
Carvill GL,
|
||
Myers CT,
|
||
Howell KB,
|
||
Maljevic S,
|
||
Lerche H,
|
||
Gazina EV,
|
||
Mefford HC,
|
||
Bahlo M,
|
||
Berkovic SF,
|
||
Petrou S,
|
||
Scheffer IE,
|
||
Gecz J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Nov 8;87(19):1975-1984.
|
||
Epub 2016 Oct 12
|
||
doi: 10.1212/WNL.0000000000003309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27733563" target="_blank">27733563</a><a href="/pmc/articles/PMC5109949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23677664">Acetazolamide-responsive ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kotagal V</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2012 Nov;32(5):533-7.
|
||
Epub 2013 May 15
|
||
doi: 10.1055/s-0033-1334475.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23677664" target="_blank">23677664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16208529">Diagnosis and management of acute movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dressler D,
|
||
Benecke R</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2005 Nov;252(11):1299-306.
|
||
Epub 2005 Oct 10
|
||
doi: 10.1007/s00415-005-0006-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16208529" target="_blank">16208529</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15136697">Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Kalla R,
|
||
Dichgans M,
|
||
Freilinger T,
|
||
Glasauer S,
|
||
Brandt T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 May 11;62(9):1623-5.
|
||
doi: 10.1212/01.wnl.0000125691.74109.53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15136697" target="_blank">15136697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%205%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35655106">Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graves TD,
|
||
Griggs RC,
|
||
Bundy BN,
|
||
Jen JC,
|
||
Baloh RW,
|
||
Hanna MG;
|
||
CINCH Investigators</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Aug;22(4):578-586.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1007/s12311-021-01360-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35655106" target="_blank">35655106</a><a href="/pmc/articles/PMC10307716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34894057">Further delineation of phenotypic spectrum of SCN2A-related disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson R,
|
||
Baralle D,
|
||
Bennett C,
|
||
Briggs T,
|
||
Bijlsma EK,
|
||
Clayton-Smith J,
|
||
Constantinou P,
|
||
Foulds N,
|
||
Jarvis J,
|
||
Jewell R,
|
||
Johnson DS,
|
||
McEntagart M,
|
||
Parker MJ,
|
||
Radley JA,
|
||
Robertson L,
|
||
Ruivenkamp C,
|
||
Rutten JW,
|
||
Tellez J,
|
||
Turnpenny PD,
|
||
Wilson V,
|
||
Wright M,
|
||
Balasubramanian M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Mar;188(3):867-877.
|
||
Epub 2021 Dec 11
|
||
doi: 10.1002/ajmg.a.62595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34894057" target="_blank">34894057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27733563">Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbett MA,
|
||
Bellows ST,
|
||
Li M,
|
||
Carroll R,
|
||
Micallef S,
|
||
Carvill GL,
|
||
Myers CT,
|
||
Howell KB,
|
||
Maljevic S,
|
||
Lerche H,
|
||
Gazina EV,
|
||
Mefford HC,
|
||
Bahlo M,
|
||
Berkovic SF,
|
||
Petrou S,
|
||
Scheffer IE,
|
||
Gecz J</span><br />
|
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<span class="medgenPMjournal">Neurology</span>
|
||
2016 Nov 8;87(19):1975-1984.
|
||
Epub 2016 Oct 12
|
||
doi: 10.1212/WNL.0000000000003309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27733563" target="_blank">27733563</a><a href="/pmc/articles/PMC5109949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21734179">A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Kalla R,
|
||
Claassen J,
|
||
Adrion C,
|
||
Mansmann U,
|
||
Klopstock T,
|
||
Freilinger T,
|
||
Neugebauer H,
|
||
Spiegel R,
|
||
Dichgans M,
|
||
Lehmann-Horn F,
|
||
Jurkat-Rott K,
|
||
Brandt T,
|
||
Jen JC,
|
||
Jahn K</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2011 Jul 19;77(3):269-75.
|
||
Epub 2011 Jul 6
|
||
doi: 10.1212/WNL.0b013e318225ab07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21734179" target="_blank">21734179</a><a href="/pmc/articles/PMC3136055" target="_blank" class="PubMedFree">Free PMC Article</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,
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||
Pulst SM</span><br />
|
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<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%205%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36794445">Three-dimensional-mapping-guided permanent conduction system pacing in paediatric patients with congenitally corrected transposition of the great arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silvetti MS,
|
||
Favoccia C,
|
||
Saputo FA,
|
||
Tamburri I,
|
||
Mizzon C,
|
||
Campisi M,
|
||
Gimigliano F,
|
||
Rinelli G,
|
||
Rava L,
|
||
Drago F</span><br />
|
||
<span class="medgenPMjournal">Europace</span>
|
||
2023 Apr 15;25(4):1482-1490.
|
||
doi: 10.1093/europace/euad026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36794445" target="_blank">36794445</a><a href="/pmc/articles/PMC10105887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35655106">Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graves TD,
|
||
Griggs RC,
|
||
Bundy BN,
|
||
Jen JC,
|
||
Baloh RW,
|
||
Hanna MG;
|
||
CINCH Investigators</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2023 Aug;22(4):578-586.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1007/s12311-021-01360-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35655106" target="_blank">35655106</a><a href="/pmc/articles/PMC10307716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34894057">Further delineation of phenotypic spectrum of SCN2A-related disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson R,
|
||
Baralle D,
|
||
Bennett C,
|
||
Briggs T,
|
||
Bijlsma EK,
|
||
Clayton-Smith J,
|
||
Constantinou P,
|
||
Foulds N,
|
||
Jarvis J,
|
||
Jewell R,
|
||
Johnson DS,
|
||
McEntagart M,
|
||
Parker MJ,
|
||
Radley JA,
|
||
Robertson L,
|
||
Ruivenkamp C,
|
||
Rutten JW,
|
||
Tellez J,
|
||
Turnpenny PD,
|
||
Wilson V,
|
||
Wright M,
|
||
Balasubramanian M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Mar;188(3):867-877.
|
||
Epub 2021 Dec 11
|
||
doi: 10.1002/ajmg.a.62595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34894057" target="_blank">34894057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27733563">Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbett MA,
|
||
Bellows ST,
|
||
Li M,
|
||
Carroll R,
|
||
Micallef S,
|
||
Carvill GL,
|
||
Myers CT,
|
||
Howell KB,
|
||
Maljevic S,
|
||
Lerche H,
|
||
Gazina EV,
|
||
Mefford HC,
|
||
Bahlo M,
|
||
Berkovic SF,
|
||
Petrou S,
|
||
Scheffer IE,
|
||
Gecz J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Nov 8;87(19):1975-1984.
|
||
Epub 2016 Oct 12
|
||
doi: 10.1212/WNL.0000000000003309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27733563" target="_blank">27733563</a><a href="/pmc/articles/PMC5109949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14530926">Novel splice site CACNA1A mutation causing episodic ataxia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaunisto MA,
|
||
Harno H,
|
||
Kallela M,
|
||
Somer H,
|
||
Sallinen R,
|
||
Hämäläinen E,
|
||
Miettinen PJ,
|
||
Vesa J,
|
||
Orpana A,
|
||
Palotie A,
|
||
Färkkilä M,
|
||
Wessman M</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2004 Feb;5(1):69-73.
|
||
Epub 2003 Oct 7
|
||
doi: 10.1007/s10048-003-0161-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14530926" target="_blank">14530926</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%205%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 (11)</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">
|
||
<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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|
||
<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=C1866039%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C1866039%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1866039%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1866039%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C1866039%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1866039%5bDISCUI%5d" target="_blank">See all (29)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<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=613855" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=211067" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Episodic%20ataxia%20type%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
||
|
||
<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=(episodic%20ataxia%20type%205)%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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</div>
|
||
|
||
<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=601949" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=785[geneid]" target="_blank">View CACNB4 variations in ClinVar</a></li><li><a href="/nuccore/255652917" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613855" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Episodic+ataxia%2C+type+5/8350" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/episodic_ataxia_type_5_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%205" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17113/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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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>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Episodic%20ataxia%20type%205" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Episodic%20ataxia%20type%205%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1866039[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1866039[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=356142" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=356142" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3dc1d67c23b31e0b6a1b0">Episodic ataxia type 5</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d3dc1784f3725e594317ef">Episodic ataxia type 4</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d3dc14cde49f3df7d70e98">Episodic ataxia type 3</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d3dc1067c23b31e0b654de">Episodic ataxia type 2</a>
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<div class="ralinkpop offscreen_noflow">Episodic ataxia type 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d3dc0c67c23b31e0b63630">NBK1138 OR NBK25442 <span class="number">(36)</span></a>
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<div class="tertiary">Books</div>
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