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<meta name="keywords" content="C5561999, celf2, dee97, developmental and epileptic encephalopathy 97, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Developmental and epileptic encephalopathy-97 (DEE97) is characterized by developmental delay, epileptic encephalopathy, and impaired intellectual development. Other clinical features may include autistic features and hypotonia. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1794209
|
||
ConceptID=C5561999
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy 97<span class="h1sub">(DEE97)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794209</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5561999</span></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>DEE97</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="CELF2 - ID: 10659 - NCBI Gene" href="/gene/10659" class="medgenPMinfo">CELF2</a> (10p14)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030453" target="_blank">MONDO:0030453</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619561" target="_blank">619561</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">Developmental and epileptic encephalopathy-97 (DEE97) is characterized by developmental delay, epileptic encephalopathy, and impaired intellectual development. Other clinical features may include autistic features and hypotonia. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<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_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</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.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</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.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_646835"><div><strong>Stereotypical hand wringing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>646835</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.">C0562479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/646835">Feature record</a> | <a href="/medgen?term=%22Stereotypical%20hand%20wringing%22%5BClinical%20Features%5D%20OR%20646835%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</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.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_315948"><div><strong>Epileptic spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315948</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.">C1527366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315948">Feature record</a> | <a href="/medgen?term=%22Epileptic%20spasm%22%5BClinical%20Features%5D%20OR%20315948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368737"><div><strong>Delayed ability to sit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368737</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.">C4476710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368737">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20sit%22%5BClinical%20Features%5D%20OR%201368737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1718874"><div><strong>Delayed ability to roll over</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718874</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.">C5397980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed achievement of the ability to roll front to back and back to front.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718874">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20roll%20over%22%5BClinical%20Features%5D%20OR%201718874%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1772845"><div><strong>Delayed ability to crawl</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1772845</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.">C5421628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1772845">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20crawl%22%5BClinical%20Features%5D%20OR%201772845%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322809"><div><strong>Poor head control</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322809</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.">C1836038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322809">Feature record</a> | <a href="/medgen?term=%22Poor%20head%20control%22%5BClinical%20Features%5D%20OR%20322809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><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_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor head control</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_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1772845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to crawl</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1718874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to roll over</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to sit</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_315948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_646835" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stereotypical hand wringing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li></ul></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/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
|
||
Wieczorek D,
|
||
Kroell-Seger J,
|
||
Lund C,
|
||
Klein KM,
|
||
Au PYB,
|
||
Rho JM,
|
||
Ho AW,
|
||
Masnada S,
|
||
Veggiotti P,
|
||
Giordano L,
|
||
Accorsi P,
|
||
Hoei-Hansen CE,
|
||
Striano P,
|
||
Zara F,
|
||
Verhelst H,
|
||
Verhoeven JS,
|
||
Braakman HMH,
|
||
van der Zwaag B,
|
||
Harder AVE,
|
||
Brilstra E,
|
||
Pendziwiat M,
|
||
Lebon S,
|
||
Vaccarezza M,
|
||
Le NM,
|
||
Christensen J,
|
||
Grønborg S,
|
||
Scherer SW,
|
||
Howe J,
|
||
Fazeli W,
|
||
Howell KB,
|
||
Leventer R,
|
||
Stutterd C,
|
||
Walsh S,
|
||
Gerard M,
|
||
Gerard B,
|
||
Matricardi S,
|
||
Bonardi CM,
|
||
Sartori S,
|
||
Berger A,
|
||
Hoffman-Zacharska D,
|
||
Mastrangelo M,
|
||
Darra F,
|
||
Vøllo A,
|
||
Motazacker MM,
|
||
Lakeman P,
|
||
Nizon M,
|
||
Betzler C,
|
||
Altuzarra C,
|
||
Caume R,
|
||
Roubertie A,
|
||
Gélisse P,
|
||
Marini C,
|
||
Guerrini R,
|
||
Bilan F,
|
||
Tibussek D,
|
||
Koch-Hogrebe M,
|
||
Perry MS,
|
||
Ichikawa S,
|
||
Dadali E,
|
||
Sharkov A,
|
||
Mishina I,
|
||
Abramov M,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Kutsev S,
|
||
Wain KE,
|
||
Eisenhauer N,
|
||
Wagner M,
|
||
Savatt JM,
|
||
Müller-Schlüter K,
|
||
Bassan H,
|
||
Borovikov A,
|
||
Nassogne MC,
|
||
Destrée A,
|
||
Schoonjans AS,
|
||
Meuwissen M,
|
||
Buzatu M,
|
||
Jansen A,
|
||
Scalais E,
|
||
Srivastava S,
|
||
Tan WH,
|
||
Olson HE,
|
||
Loddenkemper T,
|
||
Poduri A,
|
||
Helbig KL,
|
||
Helbig I,
|
||
Fitzgerald MP,
|
||
Goldberg EM,
|
||
Roser T,
|
||
Borggraefe I,
|
||
Brünger T,
|
||
May P,
|
||
Lal D,
|
||
Lederer D,
|
||
Rubboli G,
|
||
Heyne HO,
|
||
Lesca G,
|
||
Hedrich UBS,
|
||
Benda J,
|
||
Gardella E,
|
||
Lerche H,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Sep 14;145(9):2991-3009.
|
||
doi: 10.1093/brain/awab321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34607926">Hypothalamic Hamartomas: Evolving Understanding and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen NT,
|
||
Cross JH,
|
||
Arzimanoglou A,
|
||
Berkovic SF,
|
||
Kerrigan JF,
|
||
Miller IP,
|
||
Webster E,
|
||
Soeby L,
|
||
Cukiert A,
|
||
Hesdorffer DK,
|
||
Kroner BL,
|
||
Saper CB,
|
||
Schulze-Bonhage A,
|
||
Gaillard WD;
|
||
Hypothalamic Hamartoma Writing Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 2;97(18):864-873.
|
||
Epub 2021 Oct 4
|
||
doi: 10.1212/WNL.0000000000012773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34607926" target="_blank">34607926</a><a href="/pmc/articles/PMC8610628" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29320603">Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McTague A,
|
||
Martland T,
|
||
Appleton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 Jan 10;1(1):CD001905.
|
||
doi: 10.1002/14651858.CD001905.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29320603" target="_blank">29320603</a><a href="/pmc/articles/PMC6491279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2097)%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 (12)</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/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
|
||
Wieczorek D,
|
||
Kroell-Seger J,
|
||
Lund C,
|
||
Klein KM,
|
||
Au PYB,
|
||
Rho JM,
|
||
Ho AW,
|
||
Masnada S,
|
||
Veggiotti P,
|
||
Giordano L,
|
||
Accorsi P,
|
||
Hoei-Hansen CE,
|
||
Striano P,
|
||
Zara F,
|
||
Verhelst H,
|
||
Verhoeven JS,
|
||
Braakman HMH,
|
||
van der Zwaag B,
|
||
Harder AVE,
|
||
Brilstra E,
|
||
Pendziwiat M,
|
||
Lebon S,
|
||
Vaccarezza M,
|
||
Le NM,
|
||
Christensen J,
|
||
Grønborg S,
|
||
Scherer SW,
|
||
Howe J,
|
||
Fazeli W,
|
||
Howell KB,
|
||
Leventer R,
|
||
Stutterd C,
|
||
Walsh S,
|
||
Gerard M,
|
||
Gerard B,
|
||
Matricardi S,
|
||
Bonardi CM,
|
||
Sartori S,
|
||
Berger A,
|
||
Hoffman-Zacharska D,
|
||
Mastrangelo M,
|
||
Darra F,
|
||
Vøllo A,
|
||
Motazacker MM,
|
||
Lakeman P,
|
||
Nizon M,
|
||
Betzler C,
|
||
Altuzarra C,
|
||
Caume R,
|
||
Roubertie A,
|
||
Gélisse P,
|
||
Marini C,
|
||
Guerrini R,
|
||
Bilan F,
|
||
Tibussek D,
|
||
Koch-Hogrebe M,
|
||
Perry MS,
|
||
Ichikawa S,
|
||
Dadali E,
|
||
Sharkov A,
|
||
Mishina I,
|
||
Abramov M,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Kutsev S,
|
||
Wain KE,
|
||
Eisenhauer N,
|
||
Wagner M,
|
||
Savatt JM,
|
||
Müller-Schlüter K,
|
||
Bassan H,
|
||
Borovikov A,
|
||
Nassogne MC,
|
||
Destrée A,
|
||
Schoonjans AS,
|
||
Meuwissen M,
|
||
Buzatu M,
|
||
Jansen A,
|
||
Scalais E,
|
||
Srivastava S,
|
||
Tan WH,
|
||
Olson HE,
|
||
Loddenkemper T,
|
||
Poduri A,
|
||
Helbig KL,
|
||
Helbig I,
|
||
Fitzgerald MP,
|
||
Goldberg EM,
|
||
Roser T,
|
||
Borggraefe I,
|
||
Brünger T,
|
||
May P,
|
||
Lal D,
|
||
Lederer D,
|
||
Rubboli G,
|
||
Heyne HO,
|
||
Lesca G,
|
||
Hedrich UBS,
|
||
Benda J,
|
||
Gardella E,
|
||
Lerche H,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Sep 14;145(9):2991-3009.
|
||
doi: 10.1093/brain/awab321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34607926">Hypothalamic Hamartomas: Evolving Understanding and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen NT,
|
||
Cross JH,
|
||
Arzimanoglou A,
|
||
Berkovic SF,
|
||
Kerrigan JF,
|
||
Miller IP,
|
||
Webster E,
|
||
Soeby L,
|
||
Cukiert A,
|
||
Hesdorffer DK,
|
||
Kroner BL,
|
||
Saper CB,
|
||
Schulze-Bonhage A,
|
||
Gaillard WD;
|
||
Hypothalamic Hamartoma Writing Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 2;97(18):864-873.
|
||
Epub 2021 Oct 4
|
||
doi: 10.1212/WNL.0000000000012773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34607926" target="_blank">34607926</a><a href="/pmc/articles/PMC8610628" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31495662">Long-Term Outcome After Bilateral Perinatal Arterial Ischemic Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mineyko A,
|
||
Kirton A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Dec;101:39-42.
|
||
Epub 2019 Aug 2
|
||
doi: 10.1016/j.pediatrneurol.2019.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31495662" target="_blank">31495662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29320603">Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McTague A,
|
||
Martland T,
|
||
Appleton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 Jan 10;1(1):CD001905.
|
||
doi: 10.1002/14651858.CD001905.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29320603" target="_blank">29320603</a><a href="/pmc/articles/PMC6491279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16796825">Autistic epileptiform regression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canitano R,
|
||
Zappella M</span><br />
|
||
<span class="medgenPMjournal">Funct Neurol</span>
|
||
2006 Apr-Jun;21(2):97-101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16796825" target="_blank">16796825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2097%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 (78)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35390640">Extent of EEG monitoring for detecting epileptic spasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyayan A,
|
||
Takacs DS,
|
||
Vanderslice K,
|
||
Riviello JJ</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2022 Apr;97:102-105.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1016/j.seizure.2022.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35390640" target="_blank">35390640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34607926">Hypothalamic Hamartomas: Evolving Understanding and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen NT,
|
||
Cross JH,
|
||
Arzimanoglou A,
|
||
Berkovic SF,
|
||
Kerrigan JF,
|
||
Miller IP,
|
||
Webster E,
|
||
Soeby L,
|
||
Cukiert A,
|
||
Hesdorffer DK,
|
||
Kroner BL,
|
||
Saper CB,
|
||
Schulze-Bonhage A,
|
||
Gaillard WD;
|
||
Hypothalamic Hamartoma Writing Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 2;97(18):864-873.
|
||
Epub 2021 Oct 4
|
||
doi: 10.1212/WNL.0000000000012773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34607926" target="_blank">34607926</a><a href="/pmc/articles/PMC8610628" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29086067">Emerging Monogenic Complex Hyperkinetic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carecchio M,
|
||
Mencacci NE</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2017 Oct 30;17(12):97.
|
||
doi: 10.1007/s11910-017-0806-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29086067" target="_blank">29086067</a><a href="/pmc/articles/PMC5662693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25958227">A simple behavioral-developmental checklist versus formal screening for children in an epilepsy center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eom S,
|
||
Dezort C,
|
||
Fisher B,
|
||
Zelko F,
|
||
Berg AT</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2015 May;46:84-7.
|
||
Epub 2015 May 7
|
||
doi: 10.1016/j.yebeh.2015.04.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25958227" target="_blank">25958227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22962318">Epilepsies in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alam S,
|
||
Lux AL</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2012 Nov;97(11):985-92.
|
||
Epub 2012 Sep 8
|
||
doi: 10.1136/archdischild-2011-301119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22962318" target="_blank">22962318</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2097%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 (53)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35390640">Extent of EEG monitoring for detecting epileptic spasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyayan A,
|
||
Takacs DS,
|
||
Vanderslice K,
|
||
Riviello JJ</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2022 Apr;97:102-105.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1016/j.seizure.2022.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35390640" target="_blank">35390640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
|
||
Wieczorek D,
|
||
Kroell-Seger J,
|
||
Lund C,
|
||
Klein KM,
|
||
Au PYB,
|
||
Rho JM,
|
||
Ho AW,
|
||
Masnada S,
|
||
Veggiotti P,
|
||
Giordano L,
|
||
Accorsi P,
|
||
Hoei-Hansen CE,
|
||
Striano P,
|
||
Zara F,
|
||
Verhelst H,
|
||
Verhoeven JS,
|
||
Braakman HMH,
|
||
van der Zwaag B,
|
||
Harder AVE,
|
||
Brilstra E,
|
||
Pendziwiat M,
|
||
Lebon S,
|
||
Vaccarezza M,
|
||
Le NM,
|
||
Christensen J,
|
||
Grønborg S,
|
||
Scherer SW,
|
||
Howe J,
|
||
Fazeli W,
|
||
Howell KB,
|
||
Leventer R,
|
||
Stutterd C,
|
||
Walsh S,
|
||
Gerard M,
|
||
Gerard B,
|
||
Matricardi S,
|
||
Bonardi CM,
|
||
Sartori S,
|
||
Berger A,
|
||
Hoffman-Zacharska D,
|
||
Mastrangelo M,
|
||
Darra F,
|
||
Vøllo A,
|
||
Motazacker MM,
|
||
Lakeman P,
|
||
Nizon M,
|
||
Betzler C,
|
||
Altuzarra C,
|
||
Caume R,
|
||
Roubertie A,
|
||
Gélisse P,
|
||
Marini C,
|
||
Guerrini R,
|
||
Bilan F,
|
||
Tibussek D,
|
||
Koch-Hogrebe M,
|
||
Perry MS,
|
||
Ichikawa S,
|
||
Dadali E,
|
||
Sharkov A,
|
||
Mishina I,
|
||
Abramov M,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Kutsev S,
|
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<div class="nl"><a target="_blank" href="/pubmed/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
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Balestrini S,
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Wirrell EC,
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Walker MC</span><br />
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2021 Oct 26;97(17):817-831.
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Epub 2021 Sep 7
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doi: 10.1212/WNL.0000000000012744.
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<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/37951597" target="_blank">37951597</a><a href="/pmc/articles/PMC10994533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Balestrini S,
|
||
Wirrell EC,
|
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Walker MC</span><br />
|
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<span class="medgenPMjournal">Neurology</span>
|
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2021 Oct 26;97(17):817-831.
|
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Epub 2021 Sep 7
|
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doi: 10.1212/WNL.0000000000012744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29320603">Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McTague A,
|
||
Martland T,
|
||
Appleton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
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2018 Jan 10;1(1):CD001905.
|
||
doi: 10.1002/14651858.CD001905.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29320603" target="_blank">29320603</a><a href="/pmc/articles/PMC6491279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25958227">A simple behavioral-developmental checklist versus formal screening for children in an epilepsy center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eom S,
|
||
Dezort C,
|
||
Fisher B,
|
||
Zelko F,
|
||
Berg AT</span><br />
|
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<span class="medgenPMjournal">Epilepsy Behav</span>
|
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2015 May;46:84-7.
|
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Epub 2015 May 7
|
||
doi: 10.1016/j.yebeh.2015.04.023.
|
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<span class="bold">PMID: </span><a href="/pubmed/25958227" target="_blank">25958227</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2097%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 (58)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38308208">Neurodevelopmental outcomes after prenatal exposure to lamotrigine monotherapy in women with epilepsy: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Peron A,
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Picot C,
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Jurek L,
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Nourredine M,
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Ripoche E,
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Ajiji P,
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Cucherat M,
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Cottin J</span><br />
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2024 Feb 2;24(1):103.
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<span class="bold">PMID: </span><a href="/pubmed/38308208" target="_blank">38308208</a><a href="/pmc/articles/PMC10835851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/29320603">Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McTague A,
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Martland T,
|
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Appleton R</span><br />
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||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2018 Jan 10;1(1):CD001905.
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doi: 10.1002/14651858.CD001905.pub3.
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<span class="bold">PMID: </span><a href="/pubmed/29320603" target="_blank">29320603</a><a href="/pmc/articles/PMC6491279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25339211">Epilepsy-related clinical characteristics and mortality: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nevalainen O,
|
||
Ansakorpi H,
|
||
Simola M,
|
||
Raitanen J,
|
||
Isojärvi J,
|
||
Artama M,
|
||
Auvinen A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2014 Nov 18;83(21):1968-77.
|
||
Epub 2014 Oct 22
|
||
doi: 10.1212/WNL.0000000000001005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25339211" target="_blank">25339211</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2097%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 (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5561999%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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