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<meta name="keywords" content="C5231450, dee81, developmental and epileptic encephalopathy 81, developmental and epileptic encephalopathy, 81, disease or syndrome, dmxl2, eiee81, epileptic encephalopathy, early infantile, 81, 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-81 (DEE81) is an autosomal recessive neurodevelopmental disorder typically characterized by onset of severe refractory seizures soon after birth or in the first months of life. Affected individuals show little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. Brain imaging shows cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy (summary by Esposito et al., 2019; Maddirevula et al., 2019). For 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=1684681
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ConceptID=C5231450
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 81<span class="h1sub">(EIEE81; DEE81)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684681</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:">C5231450</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>EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81</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="DMXL2 - ID: 23312 - NCBI Gene" href="/gene/23312" class="medgenPMinfo">DMXL2</a> (15q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032858" target="_blank">MONDO:0032858</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618663" target="_blank">618663</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-81 (DEE81) is an autosomal recessive neurodevelopmental disorder typically characterized by onset of severe refractory seizures soon after birth or in the first months of life. Affected individuals show little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. Brain imaging shows cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy (summary by Esposito et al., 2019; Maddirevula et al., 2019). For a discussion of genetic heterogeneity of DEE, see 308350. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18386"><div><strong>Peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18386</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.">C0031117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18386">Feature record</a> | <a href="/medgen?term=%22Peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2018386%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_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_369943"><div><strong>EEG with burst suppression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369943</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.">C1969156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369943">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20burst%20suppression%22%5BClinical%20Features%5D%20OR%20369943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892508"><div><strong>Intellectual disability, profound</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892508</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.">C3161330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Profound mental retardation is defined as an intelligence quotient (IQ) below 20.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892508">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20profound%22%5BClinical%20Features%5D%20OR%20892508%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_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65142"><div><strong>Dolichocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65142</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.">C0221358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65142">Feature record</a> | <a href="/medgen?term=%22Dolichocephaly%22%5BClinical%20Features%5D%20OR%2065142%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326544"><div><strong>Severe muscular hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326544</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.">C1839630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326544">Feature record</a> | <a href="/medgen?term=%22Severe%20muscular%20hypotonia%22%5BClinical%20Features%5D%20OR%20326544%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78105"><div><strong>Concave nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78105</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.">C0264169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78105">Feature record</a> | <a href="/medgen?term=%22Concave%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%2078105%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90695"><div><strong>Myopathic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90695</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.">C0332615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90695">Feature record</a> | <a href="/medgen?term=%22Myopathic%20facies%22%5BClinical%20Features%5D%20OR%2090695%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336888"><div><strong>Small forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336888</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.">C1845250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a forehead that is abnormally small.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336888">Feature record</a> | <a href="/medgen?term=%22Small%20forehead%22%5BClinical%20Features%5D%20OR%20336888%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Concave nasal ridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90695" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathic facies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small forehead</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_65142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dolichocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe muscular hypotonia</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_369943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with burst suppression</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_892508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, profound</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy</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">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</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/37596007">Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
|
||
Mulhern S,
|
||
Sheidley BR,
|
||
Boodhoo F,
|
||
Buts S,
|
||
Chandler NJ,
|
||
Cobb J,
|
||
Curtis M,
|
||
Higginbotham EJ,
|
||
Holland J,
|
||
Khan T,
|
||
Koh J,
|
||
Liang NSY,
|
||
McRae L,
|
||
Nesbitt SE,
|
||
Oby BT,
|
||
Paternoster B,
|
||
Patton A,
|
||
Rose G,
|
||
Scotchman E,
|
||
Valentine R,
|
||
Wiltrout KN;
|
||
Gene-STEPS Study Group;
|
||
IPCHiP Executive Committee,
|
||
Hayeems RZ,
|
||
Jain P,
|
||
Lunke S,
|
||
Marshall CR,
|
||
Rockowitz S,
|
||
Sebire NJ,
|
||
Stark Z,
|
||
White SM,
|
||
Chitty LS,
|
||
Cross JH,
|
||
Scheffer IE,
|
||
Chau V,
|
||
Costain G,
|
||
Poduri A,
|
||
Howell KB,
|
||
McTague A</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Sep;22(9):812-825.
|
||
doi: 10.1016/S1474-4422(23)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37596007" target="_blank">37596007</a><a href="/pmc/articles/PMC11860300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34022752">Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barcia Aguilar C,
|
||
Amengual-Gual M,
|
||
Sánchez Fernández I,
|
||
Abend NS,
|
||
Anderson A,
|
||
Appavu B,
|
||
Arya R,
|
||
Brenton JN,
|
||
Carpenter JL,
|
||
Chapman KE,
|
||
Clark J,
|
||
Farias-Moeller R,
|
||
Gaillard WD,
|
||
Gaínza-Lein M,
|
||
Glauser T,
|
||
Goldstein JL,
|
||
Goodkin HP,
|
||
Guerriero RM,
|
||
Huh L,
|
||
Lai YC,
|
||
McDonough TL,
|
||
Mikati MA,
|
||
Morgan LA,
|
||
Novotny EJ,
|
||
Ostendorf A,
|
||
Payne ET,
|
||
Peariso K,
|
||
Piantino J,
|
||
Riviello J,
|
||
Sannagowdara K,
|
||
Sheehan T,
|
||
Sands TT,
|
||
Tasker RC,
|
||
Tchapyjnikov D,
|
||
Topjian AA,
|
||
Vasquez A,
|
||
Wainwright MS,
|
||
Wilfong AA,
|
||
Williams K,
|
||
Loddenkemper T;
|
||
pSERG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Jul;120:71-79.
|
||
Epub 2021 Mar 26
|
||
doi: 10.1016/j.pediatrneurol.2021.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34022752" target="_blank">34022752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15879038">Management of epilepsy in women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Brien MD,
|
||
Gilmour-White SK</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
2005 May;81(955):278-85.
|
||
doi: 10.1136/pgmj.2004.030221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15879038" target="_blank">15879038</a><a href="/pmc/articles/PMC1743264" 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%2C%2081)%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 (14)</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/38651838">Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berg AT,
|
||
Thompson CH,
|
||
Myers LS,
|
||
Anderson E,
|
||
Evans L,
|
||
Kaiser AJE,
|
||
Paltell K,
|
||
Nili AN,
|
||
DeKeyser JL,
|
||
Abramova TV,
|
||
Nesbitt G,
|
||
Egan SM,
|
||
Vanoye CG,
|
||
George AL Jr</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Aug 1;147(8):2761-2774.
|
||
doi: 10.1093/brain/awae125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38651838" target="_blank">38651838</a><a href="/pmc/articles/PMC11292900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38194770">What have we learned from the real-world efficacy of FFA in DS and LGS? A post-marketing study in clinical practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valls Carbó A,
|
||
Beltrán Á,
|
||
Sánchez-Miranda Román I,
|
||
Cabal B,
|
||
Gómez-Porro P,
|
||
Aledo-Serrano Á,
|
||
López Sobrino G,
|
||
Ayuga F,
|
||
Gómez Eguilaz M,
|
||
Gil-Nagel A</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2024 Feb;151:109620.
|
||
Epub 2024 Jan 8
|
||
doi: 10.1016/j.yebeh.2024.109620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38194770" target="_blank">38194770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37596007">Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
|
||
Mulhern S,
|
||
Sheidley BR,
|
||
Boodhoo F,
|
||
Buts S,
|
||
Chandler NJ,
|
||
Cobb J,
|
||
Curtis M,
|
||
Higginbotham EJ,
|
||
Holland J,
|
||
Khan T,
|
||
Koh J,
|
||
Liang NSY,
|
||
McRae L,
|
||
Nesbitt SE,
|
||
Oby BT,
|
||
Paternoster B,
|
||
Patton A,
|
||
Rose G,
|
||
Scotchman E,
|
||
Valentine R,
|
||
Wiltrout KN;
|
||
Gene-STEPS Study Group;
|
||
IPCHiP Executive Committee,
|
||
Hayeems RZ,
|
||
Jain P,
|
||
Lunke S,
|
||
Marshall CR,
|
||
Rockowitz S,
|
||
Sebire NJ,
|
||
Stark Z,
|
||
White SM,
|
||
Chitty LS,
|
||
Cross JH,
|
||
Scheffer IE,
|
||
Chau V,
|
||
Costain G,
|
||
Poduri A,
|
||
Howell KB,
|
||
McTague A</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Sep;22(9):812-825.
|
||
doi: 10.1016/S1474-4422(23)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37596007" target="_blank">37596007</a><a href="/pmc/articles/PMC11860300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23613074">Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen J,
|
||
Grønborg TK,
|
||
Sørensen MJ,
|
||
Schendel D,
|
||
Parner ET,
|
||
Pedersen LH,
|
||
Vestergaard M</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2013 Apr 24;309(16):1696-703.
|
||
doi: 10.1001/jama.2013.2270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23613074" target="_blank">23613074</a><a href="/pmc/articles/PMC4511955" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15879038">Management of epilepsy in women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Brien MD,
|
||
Gilmour-White SK</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
2005 May;81(955):278-85.
|
||
doi: 10.1136/pgmj.2004.030221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15879038" target="_blank">15879038</a><a href="/pmc/articles/PMC1743264" 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%2C%2081%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 (115)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38651838">Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berg AT,
|
||
Thompson CH,
|
||
Myers LS,
|
||
Anderson E,
|
||
Evans L,
|
||
Kaiser AJE,
|
||
Paltell K,
|
||
Nili AN,
|
||
DeKeyser JL,
|
||
Abramova TV,
|
||
Nesbitt G,
|
||
Egan SM,
|
||
Vanoye CG,
|
||
George AL Jr</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Aug 1;147(8):2761-2774.
|
||
doi: 10.1093/brain/awae125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38651838" target="_blank">38651838</a><a href="/pmc/articles/PMC11292900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37596007">Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
|
||
Mulhern S,
|
||
Sheidley BR,
|
||
Boodhoo F,
|
||
Buts S,
|
||
Chandler NJ,
|
||
Cobb J,
|
||
Curtis M,
|
||
Higginbotham EJ,
|
||
Holland J,
|
||
Khan T,
|
||
Koh J,
|
||
Liang NSY,
|
||
McRae L,
|
||
Nesbitt SE,
|
||
Oby BT,
|
||
Paternoster B,
|
||
Patton A,
|
||
Rose G,
|
||
Scotchman E,
|
||
Valentine R,
|
||
Wiltrout KN;
|
||
Gene-STEPS Study Group;
|
||
IPCHiP Executive Committee,
|
||
Hayeems RZ,
|
||
Jain P,
|
||
Lunke S,
|
||
Marshall CR,
|
||
Rockowitz S,
|
||
Sebire NJ,
|
||
Stark Z,
|
||
White SM,
|
||
Chitty LS,
|
||
Cross JH,
|
||
Scheffer IE,
|
||
Chau V,
|
||
Costain G,
|
||
Poduri A,
|
||
Howell KB,
|
||
McTague A</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Sep;22(9):812-825.
|
||
doi: 10.1016/S1474-4422(23)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37596007" target="_blank">37596007</a><a href="/pmc/articles/PMC11860300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35696452">The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
|
||
Brünger T,
|
||
Feng T,
|
||
Fons C,
|
||
Lehikoinen A,
|
||
Panagiotakaki E,
|
||
Vintan MA,
|
||
Symonds J,
|
||
Andrew J,
|
||
Arzimanoglou A,
|
||
Delima S,
|
||
Gallois J,
|
||
Hanrahan D,
|
||
Lesca G,
|
||
MacLeod S,
|
||
Marjanovic D,
|
||
McTague A,
|
||
Nuñez-Enamorado N,
|
||
Perez-Palma E,
|
||
Scott Perry M,
|
||
Pysden K,
|
||
Russ-Hall SJ,
|
||
Scheffer IE,
|
||
Sully K,
|
||
Syrbe S,
|
||
Vaher U,
|
||
Velayutham M,
|
||
Vogt J,
|
||
Weiss S,
|
||
Wirrell E,
|
||
Zuberi SM,
|
||
Lal D,
|
||
Møller RS,
|
||
Mantegazza M,
|
||
Cestèle S</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Nov 21;145(11):3816-3831.
|
||
doi: 10.1093/brain/awac210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35696452" target="_blank">35696452</a><a href="/pmc/articles/PMC9679167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
|
||
Pagani G,
|
||
Familiari A,
|
||
Khalil A,
|
||
Sagies TL,
|
||
Malinger G,
|
||
Leibovitz Z,
|
||
Garel C,
|
||
Moutard ML,
|
||
Pilu G,
|
||
Bhide A,
|
||
Acharya G,
|
||
Leombroni M,
|
||
Manzoli L,
|
||
Papageorghiou A,
|
||
Prefumo F</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Sep;138(3)
|
||
doi: 10.1542/peds.2016-0445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23613074">Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen J,
|
||
Grønborg TK,
|
||
Sørensen MJ,
|
||
Schendel D,
|
||
Parner ET,
|
||
Pedersen LH,
|
||
Vestergaard M</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2013 Apr 24;309(16):1696-703.
|
||
doi: 10.1001/jama.2013.2270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23613074" target="_blank">23613074</a><a href="/pmc/articles/PMC4511955" 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%2C%2081%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 (88)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38194770">What have we learned from the real-world efficacy of FFA in DS and LGS? A post-marketing study in clinical practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valls Carbó A,
|
||
Beltrán Á,
|
||
Sánchez-Miranda Román I,
|
||
Cabal B,
|
||
Gómez-Porro P,
|
||
Aledo-Serrano Á,
|
||
López Sobrino G,
|
||
Ayuga F,
|
||
Gómez Eguilaz M,
|
||
Gil-Nagel A</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2024 Feb;151:109620.
|
||
Epub 2024 Jan 8
|
||
doi: 10.1016/j.yebeh.2024.109620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38194770" target="_blank">38194770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32611646">Association of guideline publication and delays to treatment in pediatric status epilepticus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez Fernández I,
|
||
Abend NS,
|
||
Amengual-Gual M,
|
||
Anderson A,
|
||
Arya R,
|
||
Barcia Aguilar C,
|
||
Brenton JN,
|
||
Carpenter JL,
|
||
Chapman KE,
|
||
Clark J,
|
||
Farias-Moeller R,
|
||
Gaillard WD,
|
||
Gaínza-Lein M,
|
||
Glauser T,
|
||
Goldstein J,
|
||
Goodkin HP,
|
||
Guerriero RM,
|
||
Lai YC,
|
||
McDonough T,
|
||
Mikati MA,
|
||
Morgan LA,
|
||
Novotny E Jr,
|
||
Payne E,
|
||
Peariso K,
|
||
Piantino J,
|
||
Ostendorf A,
|
||
Sands TT,
|
||
Sannagowdara K,
|
||
Tasker RC,
|
||
Tchapyjnikov D,
|
||
Topjian AA,
|
||
Vasquez A,
|
||
Wainwright MS,
|
||
Wilfong A,
|
||
Williams K,
|
||
Loddenkemper T;
|
||
pSERG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Sep 1;95(9):e1222-e1235.
|
||
Epub 2020 Jul 1
|
||
doi: 10.1212/WNL.0000000000010174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32611646" target="_blank">32611646</a><a href="/pmc/articles/PMC7538224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24912436">Neonatal diabetes with intractable epilepsy: DEND syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh P,
|
||
Rao SC,
|
||
Parikh R</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2014 Dec;81(12):1387-8.
|
||
Epub 2014 Jun 10
|
||
doi: 10.1007/s12098-014-1486-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24912436" target="_blank">24912436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23613074">Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen J,
|
||
Grønborg TK,
|
||
Sørensen MJ,
|
||
Schendel D,
|
||
Parner ET,
|
||
Pedersen LH,
|
||
Vestergaard M</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2081%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 (65)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/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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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="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>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37770569">IQ changes after pediatric epilepsy surgery: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schmidlechner T,
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Zaddach M,
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Heinen F,
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Cornell S,
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Ramantani G,
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Rémi J,
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Vollmar C,
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Kunz M,
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<span class="bold">PMID: </span><a href="/pubmed/37770569" target="_blank">37770569</a><a href="/pmc/articles/PMC10770207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36183177">Minimally invasive procedures for hypothalamic hamartoma-related epilepsy: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iranmehr A,
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Dabbagh Ohadi MA,
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Chavoshi M,
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Jahanbakhshi A,
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<span class="medgenPMjournal">Neurosurg Focus</span>
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<span class="bold">PMID: </span><a href="/pubmed/36183177" target="_blank">36183177</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35535828">Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Frank NA,
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Greuter L,
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Dill PE,
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Guzman R,
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<span class="medgenPMjournal">Neurosurg Focus</span>
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doi: 10.3171/2022.2.FOCUS21788.
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<span class="bold">PMID: </span><a href="/pubmed/35535828" target="_blank">35535828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31398688">The co-occurrence of epilepsy and autism: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukmanji S,
|
||
Manji SA,
|
||
Kadhim S,
|
||
Sauro KM,
|
||
Wirrell EC,
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||
Kwon CS,
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Jetté N</span><br />
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Epub 2019 Aug 6
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||
<span class="bold">PMID: </span><a href="/pubmed/31398688" target="_blank">31398688</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2081%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>
|
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|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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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><li><a href="/gtr/tests?term=C5231450%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C5231450%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C5231450%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5231450%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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