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<meta name="keywords" content="C5774212, dee106, developmental and epileptic encephalopathy 106, disease or syndrome, ufsp2, 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-106 (DEE106) is an autosomal recessive disorder characterized by the onset of various types of frequent, often refractory, seizures within the first year of life. Affected individuals demonstrate profound global developmental delay with limited ability to move and severely impaired intellectual development with absent speech. Nonspecific brain abnormalities may be observed on MRI (Ni et al., 2021). 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=1823985
|
||
ConceptID=C5774212
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy 106<span class="h1sub">(DEE106)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823985</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:">C5774212</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>DEE106</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="UFSP2 - ID: 55325 - NCBI Gene" href="/gene/55325" class="medgenPMinfo">UFSP2</a> (4q35.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0031052" target="_blank">MONDO:0031052</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620028" target="_blank">620028</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-106 (DEE106) is an autosomal recessive disorder characterized by the onset of various types of frequent, often refractory, seizures within the first year of life. Affected individuals demonstrate profound global developmental delay with limited ability to move and severely impaired intellectual development with absent speech. Nonspecific brain abnormalities may be observed on MRI (Ni et al., 2021). 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">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_333083"><div><strong>Limb hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333083</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.">C1838391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333083">Feature record</a> | <a href="/medgen?term=%22Limb%20hypertonia%22%5BClinical%20Features%5D%20OR%20333083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395343"><div><strong>Postnatal growth retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395343</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.">C1859778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slow or limited growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395343">Feature record</a> | <a href="/medgen?term=%22Postnatal%20growth%20retardation%22%5BClinical%20Features%5D%20OR%20395343%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120578"><div><strong>Cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120578</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.">C0266470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120578%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82855"><div><strong>Tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82855</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.">C0270844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82855">Feature record</a> | <a href="/medgen?term=%22Tonic%20seizure%22%5BClinical%20Features%5D%20OR%2082855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155749"><div><strong>Focal clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155749</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.">C0752323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155749">Feature record</a> | <a href="/medgen?term=%22Focal%20clonic%20seizure%22%5BClinical%20Features%5D%20OR%20155749%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</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.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%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_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</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.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%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_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4550"><div><strong>Esotropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4550</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.">C0014877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4550">Feature record</a> | <a href="/medgen?term=%22Esotropia%22%5BClinical%20Features%5D%20OR%204550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4613"><div><strong>Exotropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4613</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.">C0015310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of strabismus with one or both eyes deviated outward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4613">Feature record</a> | <a href="/medgen?term=%22Exotropia%22%5BClinical%20Features%5D%20OR%204613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1641033"><div><strong>Esodeviation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641033</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.">C4551734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641033">Feature record</a> | <a href="/medgen?term=%22Esodeviation%22%5BClinical%20Features%5D%20OR%201641033%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb hypertonia</a></span></li></ul></li><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_1641033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esodeviation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esotropia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exotropia</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_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</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_82855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic seizure</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postnatal growth retardation</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/30544257">GRIN2A-related disorders: genotype and functional consequence predict phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strehlow V,
|
||
Heyne HO,
|
||
Vlaskamp DRM,
|
||
Marwick KFM,
|
||
Rudolf G,
|
||
de Bellescize J,
|
||
Biskup S,
|
||
Brilstra EH,
|
||
Brouwer OF,
|
||
Callenbach PMC,
|
||
Hentschel J,
|
||
Hirsch E,
|
||
Kind PC,
|
||
Mignot C,
|
||
Platzer K,
|
||
Rump P,
|
||
Skehel PA,
|
||
Wyllie DJA,
|
||
Hardingham GE,
|
||
van Ravenswaaij-Arts CMA,
|
||
Lesca G,
|
||
Lemke JR;
|
||
GRIN2A study group</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2019 Jan 1;142(1):80-92.
|
||
doi: 10.1093/brain/awy304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30544257" target="_blank">30544257</a><a href="/pmc/articles/PMC6308310" 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%20106)%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/38996765">Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadi NA,
|
||
Ahring PK,
|
||
Yu Liao VW,
|
||
Chua HC,
|
||
Ortiz de la Rosa S,
|
||
Johannesen KM,
|
||
Michaeli-Yossef Y,
|
||
Vincent-Devulder A,
|
||
Meridda C,
|
||
Bruel AL,
|
||
Rossi A,
|
||
Patel C,
|
||
Klepper J,
|
||
Bonanni P,
|
||
Minghetti S,
|
||
Trivisano M,
|
||
Specchio N,
|
||
Amor D,
|
||
Auvin S,
|
||
Baer S,
|
||
Meyer P,
|
||
Milh M,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Lemke JR,
|
||
Weckhuysen S,
|
||
Christophersen P,
|
||
Rubboli G,
|
||
Chebib M,
|
||
Jensen AA,
|
||
Absalom NL,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2024 Aug;106:105236.
|
||
Epub 2024 Jul 11
|
||
doi: 10.1016/j.ebiom.2024.105236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996765" target="_blank">38996765</a><a href="/pmc/articles/PMC11296288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
|
||
Sudhakar S,
|
||
Biswas A,
|
||
Massey F,
|
||
Turchetti V,
|
||
Lau T,
|
||
Cook E,
|
||
Alvi JR,
|
||
Elbendary HM,
|
||
Jewell JL,
|
||
Riva A,
|
||
Orsini A,
|
||
Vignoli A,
|
||
Federico Z,
|
||
Rosenblum J,
|
||
Schoonjans AS,
|
||
de Wachter M,
|
||
Delgado Alvarez I,
|
||
Felipe-Rucián A,
|
||
Haridy NA,
|
||
Haider S,
|
||
Zaman M,
|
||
Banu S,
|
||
Anwaar N,
|
||
Rahman F,
|
||
Maqbool S,
|
||
Yadav R,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Patel R,
|
||
Radhakrishnan R,
|
||
Prabhu SP,
|
||
Lichtenbelt K,
|
||
Stewart H,
|
||
Murakami Y,
|
||
Löbel U,
|
||
D'Arco F,
|
||
Wakeling E,
|
||
Jones W,
|
||
Hay E,
|
||
Bhate S,
|
||
Jacques TS,
|
||
Mirsky DM,
|
||
Whitehead MT,
|
||
Zaki MS,
|
||
Sultan T,
|
||
Striano P,
|
||
Jansen AC,
|
||
Lequin M,
|
||
de Vries LS,
|
||
Severino M,
|
||
Edmondson AC,
|
||
Menzies L,
|
||
Campeau PM,
|
||
Houlden H,
|
||
McTague A,
|
||
Efthymiou S,
|
||
Mankad K</span><br />
|
||
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<div class="nl"><a target="_blank" href="/pubmed/36196777">Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33005949">Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36196777">Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
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Scheffer IE,
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Ceulemans B,
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Sullivan J,
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Nickels KC,
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Lagae L,
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Guerrini R,
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Zuberi SM,
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Nabbout R,
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Riney K,
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Agarwal A,
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Lock M,
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Dai D,
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Farfel GM,
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Galer BS,
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Gammaitoni AR,
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Polega S,
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Davis R,
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Gil-Nagel A</span><br />
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2023 Jan;64(1):139-151.
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Epub 2022 Nov 9
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doi: 10.1111/epi.17431.
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<span class="bold">PMID: </span><a href="/pubmed/36196777" target="_blank">36196777</a><a href="/pmc/articles/PMC10099582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25726163">Epilepsy in a boy with a developmental venous anomaly--case-based update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Andrea ŠK,
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Jakov M,
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Nikola G</span><br />
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2015 Jun;31(6):843-6.
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Epub 2015 Mar 1
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<span class="bold">PMID: </span><a href="/pubmed/25726163" target="_blank">25726163</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20106%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38954008">The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M,
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<div class="nl"><a target="_blank" href="/pubmed/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
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<div class="nl"><a target="_blank" href="/pubmed/34102099">De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Usmani MA,
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Colao E,
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Riazuddin SA,
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<div class="nl"><a target="_blank" href="/pubmed/30544257">GRIN2A-related disorders: genotype and functional consequence predict phenotype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Strehlow V,
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Heyne HO,
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Vlaskamp DRM,
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Marwick KFM,
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Rudolf G,
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de Bellescize J,
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Brilstra EH,
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Brouwer OF,
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Callenbach PMC,
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Hentschel J,
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Hirsch E,
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Kind PC,
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Mignot C,
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Platzer K,
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Rump P,
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Skehel PA,
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Wyllie DJA,
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Hardingham GE,
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Lesca G,
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<span class="bold">PMID: </span><a href="/pubmed/30544257" target="_blank">30544257</a><a href="/pmc/articles/PMC6308310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20106%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37552066">Macrocephaly and developmental delay caused by missense variants in RAB5C.</a></div>
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van Haaften G,
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<span class="bold">PMID: </span><a href="/pubmed/37552066" target="_blank">37552066</a><a href="/pmc/articles/PMC10586195" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36196777">Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
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Scheffer IE,
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Ceulemans B,
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Sullivan J,
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Nickels KC,
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Lagae L,
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Guerrini R,
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Zuberi SM,
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Nabbout R,
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Agarwal A,
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2023 Jan;64(1):139-151.
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<span class="bold">PMID: </span><a href="/pubmed/36196777" target="_blank">36196777</a><a href="/pmc/articles/PMC10099582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34102099">De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Usmani MA,
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Ahmed ZM,
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Magini P,
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Pienkowski VM,
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Rasmussen KJ,
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Hernan R,
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Rasheed F,
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Hussain M,
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Shahzad M,
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Lanpher BC,
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Niu Z,
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Lim FY,
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Pippucci T,
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Ploski R,
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Kraus V,
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Matuszewska K,
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Palombo F,
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Kianmahd J;
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UCLA Clinical Genomics Center,
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Martinez-Agosto JA,
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Lee H,
|
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Colao E,
|
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Motazacker MM,
|
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Brigatti KW,
|
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Puffenberger EG,
|
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Riazuddin SA,
|
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Gonzaga-Jauregui C,
|
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Chung WK,
|
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Wagner M,
|
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Schultz MJ,
|
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Seri M,
|
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Kievit AJA,
|
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Perrotti N,
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Wassink-Ruiter JSK,
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van Bokhoven H,
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Riazuddin S,
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Riazuddin S</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2021 Jul 1;108(7):1330-1341.
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Epub 2021 Jun 7
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doi: 10.1016/j.ajhg.2021.05.007.
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<span class="bold">PMID: </span><a href="/pubmed/34102099" target="_blank">34102099</a><a href="/pmc/articles/PMC8322935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31175295">Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Takata A,
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Nakashima M,
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Tohyama J,
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Yoshitomi S,
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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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<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>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/30544257">GRIN2A-related disorders: genotype and functional consequence predict phenotype.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Strehlow V,
|
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Heyne HO,
|
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Vlaskamp DRM,
|
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Marwick KFM,
|
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Rudolf G,
|
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de Bellescize J,
|
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Biskup S,
|
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Brilstra EH,
|
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Brouwer OF,
|
||
Callenbach PMC,
|
||
Hentschel J,
|
||
Hirsch E,
|
||
Kind PC,
|
||
Mignot C,
|
||
Platzer K,
|
||
Rump P,
|
||
Skehel PA,
|
||
Wyllie DJA,
|
||
Hardingham GE,
|
||
van Ravenswaaij-Arts CMA,
|
||
Lesca G,
|
||
Lemke JR;
|
||
GRIN2A study group</span><br />
|
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<span class="medgenPMjournal">Brain</span>
|
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2019 Jan 1;142(1):80-92.
|
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doi: 10.1093/brain/awy304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30544257" target="_blank">30544257</a><a href="/pmc/articles/PMC6308310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20106%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 (26)</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/38954008">The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M,
|
||
Manti F,
|
||
Ricciardi G,
|
||
Cinnante EMC,
|
||
Cameli N,
|
||
Beatrice A,
|
||
Tolve M,
|
||
Pisani F</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Sep;183(9):3665-3678.
|
||
Epub 2024 Jul 2
|
||
doi: 10.1007/s00431-024-05657-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38954008" target="_blank">38954008</a><a href="/pmc/articles/PMC11322378" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37842880">Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cutillo G,
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Masnada S,
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Lesca G,
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Ville D,
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Accorsi P,
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Giordano L,
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Pichiecchio A,
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Valente M,
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Borrelli P,
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Ferraro OE,
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Veggiotti P</span><br />
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<span class="medgenPMjournal">Epilepsia Open</span>
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2024 Feb;9(1):106-121.
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Epub 2023 Nov 27
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doi: 10.1002/epi4.12837.
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<span class="bold">PMID: </span><a href="/pubmed/37842880" target="_blank">37842880</a><a href="/pmc/articles/PMC10839293" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36774775">Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arfaie S,
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Amin P,
|
||
Kwan ATH,
|
||
Solgi A,
|
||
Sarabi A,
|
||
Hakak-Zargar B,
|
||
Brunette-Clément T,
|
||
Pushenko D,
|
||
Mir-Moghtadaei K,
|
||
Mashayekhi MS,
|
||
Mofatteh M,
|
||
Honarvar F,
|
||
Ren LY,
|
||
Noiseux-Lush C,
|
||
Azizi Z,
|
||
Pearl PL,
|
||
Baldeweg T,
|
||
Weil AG,
|
||
Fallah A</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2023 Mar;106:58-67.
|
||
Epub 2023 Feb 1
|
||
doi: 10.1016/j.seizure.2023.01.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36774775" target="_blank">36774775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20000869">Long-term developmental outcome of children of women with epilepsy, unexposed or exposed prenatally to antiepileptic drugs: a meta-analysis of cohort studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banach R,
|
||
Boskovic R,
|
||
Einarson T,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2010 Jan 1;33(1):73-9.
|
||
doi: 10.2165/11317640-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20000869" target="_blank">20000869</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20106%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 (4)</a></div></div>
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