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<meta name="keywords" content="C4552072, disease or syndrome, early infantile epileptic encephalopathy, infantile epileptic dyskinetic encephalopathy, infantile epileptic-dyskinetic encephalopathy, ohtahara syndrome, ohtahara syndrome, x-linked, west syndrome, x-linked, x-linked infantile spasm syndrome, x-linked infantile spasms, x-linked west syndrome, xmesid, 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="A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1637882
|
||
ConceptID=C4552072
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Infantile epileptic dyskinetic encephalopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637882</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:">C4552072</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Early Infantile Epileptic Encephalopathy; Infantile Epileptic-Dyskinetic Encephalopathy; Ohtahara Syndrome; West Syndrome, X-Linked; X-linked infantile spasm syndrome; X-linked infantile spasms; X-Linked West Syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Infantile epileptic dyskinetic encephalopathy (771223000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018226" target="_blank">MONDO:0018226</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/308350" target="_blank">308350</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=364063">ORPHA364063</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">A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. [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>
|
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</div>
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|
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4552072[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1637882">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1637882" target="_blank" href="/omim/308350">O</a></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=1637882" ref="ncbi_uid=1637882">V</a></span></span><span class="TLline">Infantile epileptic dyskinetic encephalopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842890" ref="tree=MeSH" title="MedGen record for ARX-related epileptic encephalopathy">ARX-related epileptic encephalopathy</a></span><ul><li><span class="matched_ds">Infantile epileptic dyskinetic encephalopathy</span><ul><li><span class="TLline"><a href="/medgen/483052" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 1">Developmental and epileptic encephalopathy, 1</a></span></li><li><span class="TLline"><a href="/medgen/1663579" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 2">Developmental and epileptic encephalopathy, 2</a></span></li><li><span class="TLline"><a href="/medgen/436917" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 4">Developmental and epileptic encephalopathy, 4</a></span></li><li><span class="TLline"><a href="/medgen/462337" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 11">Developmental and epileptic encephalopathy, 11</a></span></li><li><span class="TLline"><a href="/medgen/816730" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 19">Developmental and epileptic encephalopathy, 19</a></span></li><li><span class="TLline"><a href="/medgen/863058" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 25">Developmental and epileptic encephalopathy, 25</a></span></li><li><span class="TLline"><a href="/medgen/863556" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 26">Developmental and epileptic encephalopathy, 26</a></span></li><li><span class="TLline"><a href="/medgen/909501" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 32">Developmental and epileptic encephalopathy, 32</a></span></li><li><span class="TLline"><a href="/medgen/934654" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 46">Developmental and epileptic encephalopathy, 46</a></span></li><li><span class="TLline"><a href="/medgen/1673011" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 76">Developmental and epileptic encephalopathy, 76</a></span></li><li><span class="TLline"><a href="/medgen/97959" ref="tree=MeSH" title="MedGen record for Early infantile epileptic encephalopathy with suppression bursts">Early infantile epileptic encephalopathy with suppression bursts</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22196487">Genes of early-onset epileptic encephalopathies: from genotype to phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2012 Jan;46(1):24-31.
|
||
doi: 10.1016/j.pediatrneurol.2011.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22196487" target="_blank">22196487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22infantile%20epileptic%20dyskinetic%20encephalopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</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/33000761">The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HJ,
|
||
Yang D,
|
||
Kim SH,
|
||
Kim B,
|
||
Kim HD,
|
||
Lee JS,
|
||
Choi JR,
|
||
Lee ST,
|
||
Kang HC</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2020 Oct 1;22(5):563-570.
|
||
doi: 10.1684/epd.2020.1199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33000761" target="_blank">33000761</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054490">The landscape of early infantile epileptic encephalopathy in a consanguineous population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nashabat M,
|
||
Al Qahtani XS,
|
||
Almakdob S,
|
||
Altwaijri W,
|
||
Ba-Armah DM,
|
||
Hundallah K,
|
||
Al Hashem A,
|
||
Al Tala S,
|
||
Maddirevula S,
|
||
Alkuraya FS,
|
||
Tabarki B,
|
||
Alfadhel M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Jul;69:154-172.
|
||
Epub 2019 Apr 27
|
||
doi: 10.1016/j.seizure.2019.04.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054490" target="_blank">31054490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29906699">Causes of mortality in early infantile epileptic encephalopathy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radaelli G,
|
||
de Souza Santos F,
|
||
Borelli WV,
|
||
Pisani L,
|
||
Nunes ML,
|
||
Scorza FA,
|
||
da Costa JC</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2018 Aug;85:32-36.
|
||
Epub 2018 Jun 13
|
||
doi: 10.1016/j.yebeh.2018.05.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29906699" target="_blank">29906699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29466837">Mutations in SCN3A cause early infantile epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaman T,
|
||
Helbig I,
|
||
Božović IB,
|
||
DeBrosse SD,
|
||
Bergqvist AC,
|
||
Wallis K,
|
||
Medne L,
|
||
Maver A,
|
||
Peterlin B,
|
||
Helbig KL,
|
||
Zhang X,
|
||
Goldberg EM</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2018 Apr;83(4):703-717.
|
||
Epub 2018 Mar 30
|
||
doi: 10.1002/ana.25188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29466837" target="_blank">29466837</a><a href="/pmc/articles/PMC5912987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28942967">De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers CT,
|
||
Stong N,
|
||
Mountier EI,
|
||
Helbig KL,
|
||
Freytag S,
|
||
Sullivan JE,
|
||
Ben Zeev B,
|
||
Nissenkorn A,
|
||
Tzadok M,
|
||
Heimer G,
|
||
Shinde DN,
|
||
Rezazadeh A,
|
||
Regan BM,
|
||
Oliver KL,
|
||
Ernst ME,
|
||
Lippa NC,
|
||
Mulhern MS,
|
||
Ren Z,
|
||
Poduri A,
|
||
Andrade DM,
|
||
Bird LM,
|
||
Bahlo M,
|
||
Berkovic SF,
|
||
Lowenstein DH,
|
||
Scheffer IE,
|
||
Sadleir LG,
|
||
Goldstein DB,
|
||
Mefford HC,
|
||
Heinzen EL</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2017 Oct 5;101(4):516-524.
|
||
Epub 2017 Sep 21
|
||
doi: 10.1016/j.ajhg.2017.08.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28942967" target="_blank">28942967</a><a href="/pmc/articles/PMC5630160" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20epileptic%20dyskinetic%20encephalopathy%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 (45)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843414">Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AA,
|
||
Reddy C,
|
||
Saini AG,
|
||
Vyas S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2020 Aug 24;13(8)
|
||
doi: 10.1136/bcr-2020-235468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843414" target="_blank">32843414</a><a href="/pmc/articles/PMC7449299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31175295">Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata A,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Mizuguchi T,
|
||
Mitsuhashi S,
|
||
Takahashi Y,
|
||
Okamoto N,
|
||
Osaka H,
|
||
Nakamura K,
|
||
Tohyama J,
|
||
Haginoya K,
|
||
Takeshita S,
|
||
Kuki I,
|
||
Okanishi T,
|
||
Goto T,
|
||
Sasaki M,
|
||
Sakai Y,
|
||
Miyake N,
|
||
Miyatake S,
|
||
Tsuchida N,
|
||
Iwama K,
|
||
Minase G,
|
||
Sekiguchi F,
|
||
Fujita A,
|
||
Imagawa E,
|
||
Koshimizu E,
|
||
Uchiyama Y,
|
||
Hamanaka K,
|
||
Ohba C,
|
||
Itai T,
|
||
Aoi H,
|
||
Saida K,
|
||
Sakaguchi T,
|
||
Den K,
|
||
Takahashi R,
|
||
Ikeda H,
|
||
Yamaguchi T,
|
||
Tsukamoto K,
|
||
Yoshitomi S,
|
||
Oboshi T,
|
||
Imai K,
|
||
Kimizu T,
|
||
Kobayashi Y,
|
||
Kubota M,
|
||
Kashii H,
|
||
Baba S,
|
||
Iai M,
|
||
Kira R,
|
||
Hara M,
|
||
Ohta M,
|
||
Miyata Y,
|
||
Miyata R,
|
||
Takanashi JI,
|
||
Matsui J,
|
||
Yokochi K,
|
||
Shimono M,
|
||
Amamoto M,
|
||
Takayama R,
|
||
Hirabayashi S,
|
||
Aiba K,
|
||
Matsumoto H,
|
||
Nabatame S,
|
||
Shiihara T,
|
||
Kato M,
|
||
Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Jun 7;10(1):2506.
|
||
doi: 10.1038/s41467-019-10482-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31175295" target="_blank">31175295</a><a href="/pmc/articles/PMC6555845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054490">The landscape of early infantile epileptic encephalopathy in a consanguineous population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nashabat M,
|
||
Al Qahtani XS,
|
||
Almakdob S,
|
||
Altwaijri W,
|
||
Ba-Armah DM,
|
||
Hundallah K,
|
||
Al Hashem A,
|
||
Al Tala S,
|
||
Maddirevula S,
|
||
Alkuraya FS,
|
||
Tabarki B,
|
||
Alfadhel M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Jul;69:154-172.
|
||
Epub 2019 Apr 27
|
||
doi: 10.1016/j.seizure.2019.04.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054490" target="_blank">31054490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30345727">PRICKLE1-related early onset epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M,
|
||
Tolve M,
|
||
Martinelli M,
|
||
Di Noia SP,
|
||
Parrini E,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Dec;176(12):2841-2845.
|
||
Epub 2018 Oct 22
|
||
doi: 10.1002/ajmg.a.40625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30345727" target="_blank">30345727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30107960">Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen DY,
|
||
Chowdhury S,
|
||
Farnaes L,
|
||
Friedman JR,
|
||
Honold J,
|
||
Dimmock DP,
|
||
Gold OBOTRIJJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2018 Sep;86:69-70.
|
||
Epub 2018 Jul 10
|
||
doi: 10.1016/j.pediatrneurol.2018.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30107960" target="_blank">30107960</a><a href="/pmc/articles/PMC6824418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20epileptic%20dyskinetic%20encephalopathy%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 (81)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38512072">ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Córdoba NM,
|
||
Lince-Rivera I,
|
||
Gómez JLR,
|
||
Rubboli G,
|
||
De la Rosa SO</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2024 Jun;26(3):332-340.
|
||
Epub 2024 Mar 21
|
||
doi: 10.1002/epd2.20220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38512072" target="_blank">38512072</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33410528">The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Datta AN,
|
||
Bahi-Buisson N,
|
||
Bienvenu T,
|
||
Buerki SE,
|
||
Gardiner F,
|
||
Cross JH,
|
||
Heron B,
|
||
Kaminska A,
|
||
Korff CM,
|
||
Lepine A,
|
||
Lesca G,
|
||
McTague A,
|
||
Mefford HC,
|
||
Mignot C,
|
||
Milh M,
|
||
Piton A,
|
||
Pressler RM,
|
||
Ruf S,
|
||
Sadleir LG,
|
||
de Saint Martin A,
|
||
Van Gassen K,
|
||
Verbeek NE,
|
||
Ville D,
|
||
Villeneuve N,
|
||
Zacher P,
|
||
Scheffer IE,
|
||
Lemke JR</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Feb;62(2):325-334.
|
||
Epub 2021 Jan 7
|
||
doi: 10.1111/epi.16761.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33410528" target="_blank">33410528</a><a href="/pmc/articles/PMC7898319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29906699">Causes of mortality in early infantile epileptic encephalopathy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radaelli G,
|
||
de Souza Santos F,
|
||
Borelli WV,
|
||
Pisani L,
|
||
Nunes ML,
|
||
Scorza FA,
|
||
da Costa JC</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2018 Aug;85:32-36.
|
||
Epub 2018 Jun 13
|
||
doi: 10.1016/j.yebeh.2018.05.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29906699" target="_blank">29906699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27544475">Current and Emerging Therapies of Severe Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hani AJ,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2016 May;23(2):180-6.
|
||
Epub 2016 Jun 3
|
||
doi: 10.1016/j.spen.2016.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27544475" target="_blank">27544475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26283219">De Novo Heterogeneous Mutations in SCN2A and GRIN2A Genes and Seizures With Ictal Vocalizations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh D,
|
||
Lau M,
|
||
Ayers T,
|
||
Singh Y,
|
||
Akingbola O,
|
||
Barbiero L,
|
||
Nelson S</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
2016 Aug;55(9):867-70.
|
||
Epub 2015 Aug 16
|
||
doi: 10.1177/0009922815601060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26283219" target="_blank">26283219</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20epileptic%20dyskinetic%20encephalopathy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33000761">The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HJ,
|
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Yang D,
|
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Kim SH,
|
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Kim B,
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Kim HD,
|
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Lee JS,
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Choi JR,
|
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Lee ST,
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Kang HC</span><br />
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<span class="medgenPMjournal">Epileptic Disord</span>
|
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2020 Oct 1;22(5):563-570.
|
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doi: 10.1684/epd.2020.1199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33000761" target="_blank">33000761</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054490">The landscape of early infantile epileptic encephalopathy in a consanguineous population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nashabat M,
|
||
Al Qahtani XS,
|
||
Almakdob S,
|
||
Altwaijri W,
|
||
Ba-Armah DM,
|
||
Hundallah K,
|
||
Al Hashem A,
|
||
Al Tala S,
|
||
Maddirevula S,
|
||
Alkuraya FS,
|
||
Tabarki B,
|
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Alfadhel M</span><br />
|
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<span class="medgenPMjournal">Seizure</span>
|
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2019 Jul;69:154-172.
|
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Epub 2019 Apr 27
|
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doi: 10.1016/j.seizure.2019.04.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054490" target="_blank">31054490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29906699">Causes of mortality in early infantile epileptic encephalopathy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radaelli G,
|
||
de Souza Santos F,
|
||
Borelli WV,
|
||
Pisani L,
|
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Nunes ML,
|
||
Scorza FA,
|
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da Costa JC</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
|
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2018 Aug;85:32-36.
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Epub 2018 Jun 13
|
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doi: 10.1016/j.yebeh.2018.05.015.
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<span class="bold">PMID: </span><a href="/pubmed/29906699" target="_blank">29906699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29899372">Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smigiel R,
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Landsberg G,
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Schilling M,
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Rydzanicz M,
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Pollak A,
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Walczak A,
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Stodolak A,
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Stawinski P,
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Mierzewska H,
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Sasiadek MM,
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Gruss OJ,
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Ploski R</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2018 Oct;26(10):1502-1511.
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Epub 2018 Jun 13
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doi: 10.1038/s41431-018-0179-2.
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<span class="bold">PMID: </span><a href="/pubmed/29899372" target="_blank">29899372</a><a href="/pmc/articles/PMC6138747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28697420">Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Turkdogan D,
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Usluer S,
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Akalin F,
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Agyuz U,
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Aslan ES</span><br />
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<span class="medgenPMjournal">Seizure</span>
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2017 Aug;50:171-172.
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Epub 2017 Jun 28
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doi: 10.1016/j.seizure.2017.06.019.
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<span class="bold">PMID: </span><a href="/pubmed/28697420" target="_blank">28697420</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20epileptic%20dyskinetic%20encephalopathy%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 (35)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33000761">The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HJ,
|
||
Yang D,
|
||
Kim SH,
|
||
Kim B,
|
||
Kim HD,
|
||
Lee JS,
|
||
Choi JR,
|
||
Lee ST,
|
||
Kang HC</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2020 Oct 1;22(5):563-570.
|
||
doi: 10.1684/epd.2020.1199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33000761" target="_blank">33000761</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31175295">Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata A,
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Nakashima M,
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Saitsu H,
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Mizuguchi T,
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Mitsuhashi S,
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Takahashi Y,
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Okamoto N,
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Osaka H,
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Nakamura K,
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Tohyama J,
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Haginoya K,
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Takeshita S,
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Kuki I,
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Okanishi T,
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Goto T,
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Sasaki M,
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Sakai Y,
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Miyake N,
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Miyatake S,
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Tsuchida N,
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Iwama K,
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Minase G,
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Sekiguchi F,
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Fujita A,
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Imagawa E,
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Koshimizu E,
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Uchiyama Y,
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Hamanaka K,
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Ohba C,
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Itai T,
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Aoi H,
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Saida K,
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Sakaguchi T,
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Den K,
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Takahashi R,
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Ikeda H,
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Yamaguchi T,
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Tsukamoto K,
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Yoshitomi S,
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Oboshi T,
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Imai K,
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Kimizu T,
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Kobayashi Y,
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Kubota M,
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Kashii H,
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Baba S,
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Iai M,
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Kira R,
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Hara M,
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Ohta M,
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Miyata Y,
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Miyata R,
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Takanashi JI,
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Matsui J,
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Yokochi K,
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Shimono M,
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Amamoto M,
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Takayama R,
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Hirabayashi S,
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Aiba K,
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Matsumoto H,
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Nabatame S,
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Shiihara T,
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Kato M,
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Matsumoto N</span><br />
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<span class="medgenPMjournal">Nat Commun</span>
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2019 Jun 7;10(1):2506.
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doi: 10.1038/s41467-019-10482-9.
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<span class="bold">PMID: </span><a href="/pubmed/31175295" target="_blank">31175295</a><a href="/pmc/articles/PMC6555845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29899372">Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smigiel R,
|
||
Landsberg G,
|
||
Schilling M,
|
||
Rydzanicz M,
|
||
Pollak A,
|
||
Walczak A,
|
||
Stodolak A,
|
||
Stawinski P,
|
||
Mierzewska H,
|
||
Sasiadek MM,
|
||
Gruss OJ,
|
||
Ploski R</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Oct;26(10):1502-1511.
|
||
Epub 2018 Jun 13
|
||
doi: 10.1038/s41431-018-0179-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29899372" target="_blank">29899372</a><a href="/pmc/articles/PMC6138747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29466837">Mutations in SCN3A cause early infantile epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaman T,
|
||
Helbig I,
|
||
Božović IB,
|
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DeBrosse SD,
|
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Bergqvist AC,
|
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Wallis K,
|
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Medne L,
|
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Maver A,
|
||
Peterlin B,
|
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Helbig KL,
|
||
Zhang X,
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Goldberg EM</span><br />
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<span class="medgenPMjournal">Ann Neurol</span>
|
||
2018 Apr;83(4):703-717.
|
||
Epub 2018 Mar 30
|
||
doi: 10.1002/ana.25188.
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||
<span class="bold">PMID: </span><a href="/pubmed/29466837" target="_blank">29466837</a><a href="/pmc/articles/PMC5912987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26682992">Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacob J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2016 Feb;57(2):182-93.
|
||
Epub 2015 Dec 19
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||
doi: 10.1111/epi.13272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26682992" target="_blank">26682992</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20epileptic%20dyskinetic%20encephalopathy%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 (39)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054490">The landscape of early infantile epileptic encephalopathy in a consanguineous population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nashabat M,
|
||
Al Qahtani XS,
|
||
Almakdob S,
|
||
Altwaijri W,
|
||
Ba-Armah DM,
|
||
Hundallah K,
|
||
Al Hashem A,
|
||
Al Tala S,
|
||
Maddirevula S,
|
||
Alkuraya FS,
|
||
Tabarki B,
|
||
Alfadhel M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Jul;69:154-172.
|
||
Epub 2019 Apr 27
|
||
doi: 10.1016/j.seizure.2019.04.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054490" target="_blank">31054490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29906699">Causes of mortality in early infantile epileptic encephalopathy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radaelli G,
|
||
de Souza Santos F,
|
||
Borelli WV,
|
||
Pisani L,
|
||
Nunes ML,
|
||
Scorza FA,
|
||
da Costa JC</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2018 Aug;85:32-36.
|
||
Epub 2018 Jun 13
|
||
doi: 10.1016/j.yebeh.2018.05.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29906699" target="_blank">29906699</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20epileptic%20dyskinetic%20encephalopathy%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 (2)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4552072%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4552072%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=364063" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Infantile%20epileptic%20dyskinetic%20encephalopathy" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22infantile%20epileptic%20dyskinetic%20encephalopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Infantile%20epileptic%20dyskinetic%20encephalopathy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17582/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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