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<meta name="keywords" content="C5676955, dee101, developmental and epileptic encephalopathy 101, disease or syndrome, grin1, 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-101 (DEE101) is a severe autosomal recessive disorder characterized by early infantile epileptic encephalopathy and severe global developmental delay (summary by Blakes et al., 2022). 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=1805172
|
||
ConceptID=C5676955
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy 101<span class="h1sub">(DEE101)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1805172</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:">C5676955</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>DEE101</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="GRIN1 - ID: 2902 - NCBI Gene" href="/gene/2902" class="medgenPMinfo">GRIN1</a> (9q34.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030727" target="_blank">MONDO:0030727</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619814" target="_blank">619814</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-101 (DEE101) is a severe autosomal recessive disorder characterized by early infantile epileptic encephalopathy and severe global developmental delay (summary by Blakes et al., 2022). 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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||
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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_56230"><div><strong>Third degree atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56230</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.">C0151517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56230">Feature record</a> | <a href="/medgen?term=%22Third%20degree%20atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2056230%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140901"><div><strong>Bradycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140901</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.">C0428977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A slower than normal heart rate (in adults, slower than 60 beats per minute).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140901">Feature record</a> | <a href="/medgen?term=%22Bradycardia%22%5BClinical%20Features%5D%20OR%20140901%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</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.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56246"><div><strong>Opisthotonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56246</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.">C0151818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56246">Feature record</a> | <a href="/medgen?term=%22Opisthotonus%22%5BClinical%20Features%5D%20OR%2056246%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332436"><div><strong>Severe global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332436</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.">C1837397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332436">Feature record</a> | <a href="/medgen?term=%22Severe%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20332436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_766364"><div><strong>Profound global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766364</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.">C3553450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A profound delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766364">Feature record</a> | <a href="/medgen?term=%22Profound%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20766364%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322809"><div><strong>Poor head control</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322809</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322809">Feature record</a> | <a href="/medgen?term=%22Poor%20head%20control%22%5BClinical%20Features%5D%20OR%20322809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369611"><div><strong>Limb joint contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369611</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.">C1969879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369611">Feature record</a> | <a href="/medgen?term=%22Limb%20joint%20contracture%22%5BClinical%20Features%5D%20OR%20369611%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_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradycardia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Third degree atrioventricular block</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</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_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><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_369611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb joint contracture</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor head control</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opisthotonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Profound global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe global developmental delay</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</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/39357456">A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chourasia N,
|
||
Vaidya R,
|
||
Sengupta S,
|
||
Mefford HC,
|
||
Wheless J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2024 Dec;161:101-107.
|
||
Epub 2024 Sep 13
|
||
doi: 10.1016/j.pediatrneurol.2024.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39357456" target="_blank">39357456</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38637746">Whole-cycle management of women with epilepsy of child-bearing age: ontology construction and application.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia Y,
|
||
Duan Y,
|
||
Sha L,
|
||
Lai W,
|
||
Zhang Z,
|
||
Hou J,
|
||
Chen L</span><br />
|
||
<span class="medgenPMjournal">BMC Med Inform Decis Mak</span>
|
||
2024 Apr 18;24(1):101.
|
||
doi: 10.1186/s12911-024-02509-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38637746" target="_blank">38637746</a><a href="/pmc/articles/PMC11027401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36084525">Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Essajee F,
|
||
Urban M,
|
||
Smit L,
|
||
Wilmshurst JM,
|
||
Solomons R,
|
||
van Toorn R,
|
||
Moosa S</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2022 Oct;101:197-204.
|
||
Epub 2022 Sep 2
|
||
doi: 10.1016/j.seizure.2022.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36084525" target="_blank">36084525</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%20101)%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 (4)</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/39096015">Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viswanathan S,
|
||
Oliver KL,
|
||
Regan BM,
|
||
Schneider AL,
|
||
Myers CT,
|
||
Mehaffey MG,
|
||
LaCroix AJ,
|
||
Antony J,
|
||
Webster R,
|
||
Cardamone M,
|
||
Subramanian GM,
|
||
Chiu ATG,
|
||
Roza E,
|
||
Teleanu RI,
|
||
Malone S,
|
||
Leventer RJ,
|
||
Gill D,
|
||
Berkovic SF,
|
||
Hildebrand MS,
|
||
Goad BS,
|
||
Howell KB,
|
||
Symonds JD,
|
||
Brunklaus A,
|
||
Sadleir LG,
|
||
Zuberi SM,
|
||
Mefford HC,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2024 Nov;96(5):932-943.
|
||
Epub 2024 Aug 2
|
||
doi: 10.1002/ana.27041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39096015" target="_blank">39096015</a><a href="/pmc/articles/PMC11496008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35395208">Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.</a></div>
|
||
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<span class="bold">PMID: </span><a href="/pubmed/29100083" target="_blank">29100083</a><a href="/pmc/articles/PMC5673604" 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%20101%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 (48)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31699663">Can we and should we use animal models to study neurobehavioral comorbidities of epilepsy?</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29100083">High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hamdan FF,
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Myers CT,
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Cossette P,
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Lemay P,
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Spiegelman D,
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Laporte AD,
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Nassif C,
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Diallo O,
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Monlong J,
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Cadieux-Dion M,
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Dobrzeniecka S,
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Meloche C,
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Retterer K,
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Cho MT,
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Rosenfeld JA,
|
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Bi W,
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Massicotte C,
|
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Miguet M,
|
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Brunga L,
|
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Regan BM,
|
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Mo K,
|
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Tam C,
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Schneider A,
|
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Hollingsworth G;
|
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Deciphering Developmental Disorders Study,
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FitzPatrick DR,
|
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Donaldson A,
|
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Canham N,
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Blair E,
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Kerr B,
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Fry AE,
|
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Thomas RH,
|
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Shelagh J,
|
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Hurst JA,
|
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Brittain H,
|
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Blyth M,
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Lebel RR,
|
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Gerkes EH,
|
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Davis-Keppen L,
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Stein Q,
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Chung WK,
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Dorison SJ,
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Benke PJ,
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Fassi E,
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Corsten-Janssen N,
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Kamsteeg EJ,
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Mau-Them FT,
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Bruel AL,
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Verloes A,
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Õunap K,
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Wojcik MH,
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Albert DVF,
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Venkateswaran S,
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Ware T,
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Jones D,
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Liu YC,
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Mohammad SS,
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Bizargity P,
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Bacino CA,
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Leuzzi V,
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Martinelli S,
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Dallapiccola B,
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Tartaglia M,
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Blumkin L,
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Wierenga KJ,
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Purcarin G,
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O'Byrne JJ,
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Stockler S,
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Lehman A,
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Keren B,
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Nougues MC,
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Mignot C,
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Auvin S,
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Nava C,
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Hiatt SM,
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Bebin M,
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Shao Y,
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Scaglia F,
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Lalani SR,
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Frye RE,
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Jarjour IT,
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Jacques S,
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Boucher RM,
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Riou E,
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Srour M,
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Carmant L,
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Lortie A,
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Major P,
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Diadori P,
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Dubeau F,
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D'Anjou G,
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Bourque G,
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Berkovic SF,
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Sadleir LG,
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Campeau PM,
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Kibar Z,
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Lafrenière RG,
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Girard SL,
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Mercimek-Mahmutoglu S,
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Boelman C,
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Rouleau GA,
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Scheffer IE,
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Mefford HC,
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Andrade DM,
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Rossignol E,
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Minassian BA,
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Michaud JL</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2017 Nov 2;101(5):664-685.
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doi: 10.1016/j.ajhg.2017.09.008.
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<span class="bold">PMID: </span><a href="/pubmed/29100083" target="_blank">29100083</a><a href="/pmc/articles/PMC5673604" 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%20101%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 (39)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37295955">Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.</a></div>
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Kahoud R,
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Kapur K,
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Lai YC,
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<div class="nl"><a target="_blank" href="/pubmed/37062282">An Initial Experience of Completion Hemispherotomy via Magnetic Resonance-Guided Laser Interstitial Therapy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31495662">Long-Term Outcome After Bilateral Perinatal Arterial Ischemic Stroke.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20101%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 (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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Tse GTW,
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<span class="bold">PMID: </span><a href="/pubmed/37748886" target="_blank">37748886</a><a href="/pmc/articles/PMC10663013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37295955">Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Peariso K,
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Arya R,
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Glauser T,
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Abend NS,
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Barcia Aguilar C,
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Amengual-Gual M,
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Anderson A,
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Appavu BL,
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Brenton JN,
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Carpenter J,
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Chapman KE,
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Clark J,
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Gaillard WD,
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Gaínza-Lein M,
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Goldstein J,
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Goodkin H,
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Grinspan Z,
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Guerriero RM,
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Horn PS,
|
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Huh L,
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Kahoud R,
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Kelley SA,
|
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Kossoff EH,
|
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Kapur K,
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Lai YC,
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Marquis BO,
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McDonough T,
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Mikati MA,
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Morgan L,
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Novotny E,
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Ostendorf AP,
|
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Payne ET,
|
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Piantino J,
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Riviello J,
|
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Sands T,
|
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Stafstrom CE,
|
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Tasker RC,
|
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Tchapyjnikov D,
|
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Vasquez A,
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Wainwright MS,
|
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Wilfong A,
|
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Williams K,
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Loddenkemper T;
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for Pediatric Status Epilepticus Research Group (pSERG)</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2023 Aug 1;101(5):e546-e557.
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Epub 2023 Jun 9
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doi: 10.1212/WNL.0000000000207472.
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<span class="bold">PMID: </span><a href="/pubmed/37295955" target="_blank">37295955</a><a href="/pmc/articles/PMC10401687" 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/35395208">Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson SEM,
|
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Costain G,
|
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Blok LER,
|
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Silk MA,
|
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Nguyen TB,
|
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Dong X,
|
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Alhuzaimi DE,
|
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Dowling JJ,
|
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Walker S,
|
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Amburgey K,
|
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Hayeems RZ,
|
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Rodan LH,
|
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Schwartz MA,
|
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Picker J,
|
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Lynch SA,
|
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Gupta A,
|
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Rasmussen KJ,
|
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Schimmenti LA,
|
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Klee EW,
|
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Niu Z,
|
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Agre KE,
|
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Chilton I,
|
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Chung WK,
|
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Revah-Politi A,
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Au PYB,
|
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Griffith C,
|
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Racobaldo M,
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Raas-Rothschild A,
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Ben Zeev B,
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Barel O,
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Moutton S,
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Morice-Picard F,
|
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Carmignac V,
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Cornaton J,
|
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Marle N,
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Devinsky O,
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Stimach C,
|
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Wechsler SB,
|
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Hainline BE,
|
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Sapp K,
|
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Willems M,
|
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Bruel AL,
|
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Dias KR,
|
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Evans CA,
|
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Roscioli T,
|
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Sachdev R,
|
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Temple SEL,
|
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Zhu Y,
|
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Baker JJ,
|
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Scheffer IE,
|
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Gardiner FJ,
|
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Schneider AL,
|
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Muir AM,
|
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Mefford HC,
|
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Crunk A,
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Heise EM,
|
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Millan F,
|
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Monaghan KG,
|
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Person R,
|
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Rhodes L,
|
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Richards S,
|
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Wentzensen IM,
|
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Cogné B,
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Isidor B,
|
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Nizon M,
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Vincent M,
|
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Besnard T,
|
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Piton A,
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Marcelis C,
|
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Kato K,
|
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Koyama N,
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Ogi T,
|
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Goh ES,
|
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Richmond C,
|
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Amor DJ,
|
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Boyce JO,
|
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Morgan AT,
|
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Hildebrand MS,
|
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Kaspi A,
|
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Bahlo M,
|
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Friðriksdóttir R,
|
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Katrínardóttir H,
|
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Sulem P,
|
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Stefánsson K,
|
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Björnsson HT,
|
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Mandelstam S,
|
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Morleo M,
|
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Mariani M;
|
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TUDP Study Group,
|
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Scala M,
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Accogli A,
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Torella A,
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Capra V,
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Wallis M,
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Jansen S,
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Weisfisz Q,
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de Haan H,
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Sadedin S;
|
||
Broad Center for Mendelian Genomics,
|
||
Lim SC,
|
||
White SM,
|
||
Ascher DB,
|
||
Schenck A,
|
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Lockhart PJ,
|
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Christodoulou J,
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Tan TY</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2022 Apr 7;109(4):601-617.
|
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doi: 10.1016/j.ajhg.2022.03.002.
|
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<span class="bold">PMID: </span><a href="/pubmed/35395208" target="_blank">35395208</a><a href="/pmc/articles/PMC9069070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34028496">Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glass HC,
|
||
Soul JS,
|
||
Chang T,
|
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Wusthoff CJ,
|
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Chu CJ,
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Massey SL,
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Abend NS,
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Lemmon M,
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Thomas C,
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Numis AL,
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Guillet R,
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Sturza J,
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McNamara NA,
|
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Rogers EE,
|
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Franck LS,
|
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McCulloch CE,
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Shellhaas RA</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Jul 1;78(7):817-825.
|
||
doi: 10.1001/jamaneurol.2021.1437.
|
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<span class="bold">PMID: </span><a href="/pubmed/34028496" target="_blank">34028496</a><a href="/pmc/articles/PMC8145161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29100083">High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamdan FF,
|
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Myers CT,
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Cossette P,
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Lemay P,
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Spiegelman D,
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Laporte AD,
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Nassif C,
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Diallo O,
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Monlong J,
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Cadieux-Dion M,
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Dobrzeniecka S,
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Meloche C,
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Retterer K,
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Cho MT,
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Rosenfeld JA,
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Bi W,
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Massicotte C,
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Miguet M,
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Brunga L,
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Regan BM,
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Mo K,
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Tam C,
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Schneider A,
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Hollingsworth G;
|
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Deciphering Developmental Disorders Study,
|
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FitzPatrick DR,
|
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Donaldson A,
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Canham N,
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Blair E,
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Kerr B,
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Fry AE,
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Thomas RH,
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Shelagh J,
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Hurst JA,
|
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Brittain H,
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Blyth M,
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Lebel RR,
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Gerkes EH,
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Davis-Keppen L,
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Stein Q,
|
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Chung WK,
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Dorison SJ,
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Benke PJ,
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Fassi E,
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Corsten-Janssen N,
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Kamsteeg EJ,
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Mau-Them FT,
|
||
Bruel AL,
|
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Verloes A,
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Õunap K,
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Wojcik MH,
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Albert DVF,
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Venkateswaran S,
|
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Ware T,
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Jones D,
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Liu YC,
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||
Mohammad SS,
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Bizargity P,
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Bacino CA,
|
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Leuzzi V,
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Martinelli S,
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Dallapiccola B,
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Tartaglia M,
|
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Blumkin L,
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Wierenga KJ,
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Purcarin G,
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O'Byrne JJ,
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Stockler S,
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Lehman A,
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Keren B,
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Nougues MC,
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Mignot C,
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Auvin S,
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Nava C,
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Hiatt SM,
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Bebin M,
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Shao Y,
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Scaglia F,
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Lalani SR,
|
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Frye RE,
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Jarjour IT,
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Jacques S,
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Boucher RM,
|
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Riou E,
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Srour M,
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Carmant L,
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Lortie A,
|
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Major P,
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Diadori P,
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Dubeau F,
|
||
D'Anjou G,
|
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Bourque G,
|
||
Berkovic SF,
|
||
Sadleir LG,
|
||
Campeau PM,
|
||
Kibar Z,
|
||
Lafrenière RG,
|
||
Girard SL,
|
||
Mercimek-Mahmutoglu S,
|
||
Boelman C,
|
||
Rouleau GA,
|
||
Scheffer IE,
|
||
Mefford HC,
|
||
Andrade DM,
|
||
Rossignol E,
|
||
Minassian BA,
|
||
Michaud JL</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2017 Nov 2;101(5):664-685.
|
||
doi: 10.1016/j.ajhg.2017.09.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29100083" target="_blank">29100083</a><a href="/pmc/articles/PMC5673604" 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%20101%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 (34)</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/39059136">Living with epilepsy in adolescence and young adulthood transitioning from pediatric to adult hospital services: A systematic review and meta-synthesis of qualitative studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abildgaard Hansen O,
|
||
Clemensen J,
|
||
Beier CP,
|
||
Barasinski Pedersen J,
|
||
Smith AC,
|
||
Kaas Larsen M</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2024 Sep;158:109955.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1016/j.yebeh.2024.109955.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39059136" target="_blank">39059136</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34373012">Intraoperative magnetic resonance imaging in epilepsy surgery: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Englman C,
|
||
Malpas CB,
|
||
Harvey AS,
|
||
Maixner WJ,
|
||
Yang JY</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2021 Sep;91:1-8.
|
||
Epub 2021 Jun 27
|
||
doi: 10.1016/j.jocn.2021.06.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34373012" target="_blank">34373012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30940509">Gait deviations in patients with dravet syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wyers L,
|
||
Van de Walle P,
|
||
Hoornweg A,
|
||
Tepes Bobescu I,
|
||
Verheyen K,
|
||
Ceulemans B,
|
||
Schoonjans AS,
|
||
Desloovere K,
|
||
Hallemans A</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2019 May;23(3):357-367.
|
||
Epub 2019 Mar 22
|
||
doi: 10.1016/j.ejpn.2019.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30940509" target="_blank">30940509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26851683">Diffusion tensor tractography imaging in pediatric epilepsy - A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szmuda M,
|
||
Szmuda T,
|
||
Springer J,
|
||
Rogowska M,
|
||
Sabisz A,
|
||
Dubaniewicz M,
|
||
Mazurkiewicz-Bełdzińska M</span><br />
|
||
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
|
||
2016;50(1):1-6.
|
||
Epub 2015 Oct 29
|
||
doi: 10.1016/j.pjnns.2015.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26851683" target="_blank">26851683</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%20101%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5676955%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C5676955%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C5676955%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5676955%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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||
</ul></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619814" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy%20101" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%20101)%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 mgSection" id="ID_115">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=138249" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2902[geneid]" target="_blank">View GRIN1 variations in ClinVar</a></li><li><a href="/nuccore/224809340" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=619814" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_101" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Developmental%20and%20epileptic%20encephalopathy%20101" target="_blank">MedlinePlus</a></li></ul></div>
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||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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||
<h3>Reviews</h3>
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||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
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||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy%20101" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy%20101%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
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||
<ul>
|
||
<li class="brieflinkpopper">
|
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