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<meta name="keywords" content="C3150986, dee7, developmental and epileptic encephalopathy 7, developmental and epileptic encephalopathy, 7, disease or syndrome, early infantile epileptic encephalopathy 7, eiee7, epileptic encephalopathy, early infantile, 7, epileptic encephalopathy, early infantile, type 7, kcnq2, kcnq2-nee, kcnq2-related disorders, kcnq2-related epileptic encephalopathy, kcnq2-related neonatal epileptic encephalopathy, 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="KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to neonatal-onset developmental and epileptic encephalopathy (NEO-DEE) at the severe end. Additional, less common phenotypes consisting of neonatal encephalopathy with non-epileptic myoclonus, infantile or childhood-onset developmental and epileptic encephalopathy (DEE), and isolated intellectual disability (ID) without epilepsy have also been described. KCNQ2-SLFNE is characterized by seizures that start in otherwise healthy infants between two and eight days after term birth and spontaneously disappear between the first and the sixth to 12th month of life. There is always a seizure-free interval between birth and the onset of seizures. Seizures are characterized by sudden onset with prominent motor involvement, often accompanied by apnea and cyanosis; video EEG identifies seizures as focal onset with tonic stiffening of limb(s) and some migration during each seizure's evolution. About 30% of individuals with KCNQ2-SLFNE develop epileptic seizures later in life. KCNQ2-NEO-DEE is characterized by multiple daily seizures beginning in the first week of life that are mostly tonic, with associated focal motor and autonomic features. Seizures generally cease between ages nine months and four years. At onset, EEG shows a burst-suppression pattern or multifocal epileptiform activity; early brain MRI can show basal ganglia hyperdensities and later MRIs may show white matter or general volume loss. Moderate-to-profound developmental impairment is present." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=462336
|
||
ConceptID=C3150986
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 7<span class="h1sub">(DEE7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462336</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:">C3150986</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DEE7; Early infantile epileptic encephalopathy 7; KCNQ2-Related Neonatal Epileptic Encephalopathy</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="KCNQ2 - ID: 3785 - NCBI Gene" href="/gene/3785" class="medgenPMinfo">KCNQ2</a> (20q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013387" target="_blank">MONDO:0013387</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613720" target="_blank">613720</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=439218">ORPHA439218</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK32534" target="_blank">KCNQ2-Related Disorders</a></div><div>KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to neonatal-onset developmental and epileptic encephalopathy (NEO-DEE) at the severe end. Additional, less common phenotypes consisting of neonatal encephalopathy with non-epileptic myoclonus, infantile or childhood-onset developmental and epileptic encephalopathy (DEE), and isolated intellectual disability (ID) without epilepsy have also been described. KCNQ2-SLFNE is characterized by seizures that start in otherwise healthy infants between two and eight days after term birth and spontaneously disappear between the first and the sixth to 12th month of life. There is always a seizure-free interval between birth and the onset of seizures. Seizures are characterized by sudden onset with prominent motor involvement, often accompanied by apnea and cyanosis; video EEG identifies seizures as focal onset with tonic stiffening of limb(s) and some migration during each seizure's evolution. About 30% of individuals with KCNQ2-SLFNE develop epileptic seizures later in life. KCNQ2-NEO-DEE is characterized by multiple daily seizures beginning in the first week of life that are mostly tonic, with associated focal motor and autonomic features. Seizures generally cease between ages nine months and four years. At onset, EEG shows a burst-suppression pattern or multifocal epileptiform activity; early brain MRI can show basal ganglia hyperdensities and later MRIs may show white matter or general volume loss. Moderate-to-profound developmental impairment is present. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK32534#bfns.Summary" target="NBK32534">Summary</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.GeneReview_Scope" target="NBK32534">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Diagnosis" target="NBK32534">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Clinical_Characteristics" target="NBK32534">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Genetically_Related_Allelic_Disorde" target="NBK32534">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Differential_Diagnosis" target="NBK32534">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Management" target="NBK32534">Management</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Genetic_Counseling" target="NBK32534">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Resources" target="NBK32534">Resources</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Molecular_Genetics" target="NBK32534">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.Chapter_Notes" target="NBK32534">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK32534#bfns.References" target="NBK32534">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Francesco Miceli | Maria Virginia Soldovieri | Sarah Weckhuysen<i>, et. al.</i> <a href="/books/NBK32534" target="NBK32534" title="NCBI Bookshelf: KCNQ2-Related Disorders">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Developmental and epileptic encephalopathy-7 (DEE7) is a neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period. Affected individuals have resultant delayed neurologic development and persistent neurologic abnormalities. EEG initially shows a burst suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, which may later evolve to multifocal epileptiform activity. Brain imaging in some patients shows lesions in the basal ganglia. Seizures usually remit by age 3 or 4 years, with improvement of EEG abnormalities and possibly brain imaging abnormalities, but the severe neurologic deficits persist (summary by Borgatti et al., 2004 and Weckhuysen et al., 2012). <a target="_blank" href="http://www.omim.org/entry/613720">http://www.omim.org/entry/613720</a></div></div>
|
||
</div>
|
||
|
||
<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_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%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_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%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_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_658719"><div><strong>Spastic tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658719</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.">C0575059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic weakness affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/658719">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraparesis%22%5BClinical%20Features%5D%20OR%20658719%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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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="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 musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></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_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><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_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_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_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_658719" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraparesis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150986[DISCUI]&test_type=Clinical" ref="ncbi_uid=462336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462336" target="_blank" href="/omim/602235">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK32534/" ref="ncbi_uid=462336">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462336" ref="ncbi_uid=462336">V</a></span></span><span class="TLline">Developmental and epileptic encephalopathy, 7</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842675" ref="tree=MeSH" title="MedGen record for Monogenic epilepsy">Monogenic epilepsy</a></span><ul><li><span class="matched_ds">Developmental and epileptic encephalopathy, 7</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36896643">The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">von Brauchitsch S,
|
||
Haslinger D,
|
||
Lindlar S,
|
||
Thiele H,
|
||
Bernsen N,
|
||
Zahnert F,
|
||
Reif PS,
|
||
Balcik Y,
|
||
Au PYB,
|
||
Josephson CB,
|
||
Altmüller J,
|
||
Strzelczyk A,
|
||
Knake S,
|
||
Rosenow F,
|
||
Chiocchetti A,
|
||
Klein KM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Jun;8(2):497-508.
|
||
Epub 2023 Mar 17
|
||
doi: 10.1002/epi4.12719.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36896643" target="_blank">36896643</a><a href="/pmc/articles/PMC10235558" 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%207%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38612920">X-Linked Epilepsies: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardo P,
|
||
Cuccurullo C,
|
||
Rubino M,
|
||
De Vita G,
|
||
Terrone G,
|
||
Bilo L,
|
||
Coppola A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 8;25(7)
|
||
doi: 10.3390/ijms25074110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38612920" target="_blank">38612920</a><a href="/pmc/articles/PMC11012983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36806388">Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aronica E,
|
||
Specchio N,
|
||
Luinenburg MJ,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Jul 3;146(7):2694-2710.
|
||
doi: 10.1093/brain/awad048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36806388" target="_blank">36806388</a><a href="/pmc/articles/PMC10316778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35490361">International consensus on diagnosis and management of Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirrell EC,
|
||
Hood V,
|
||
Knupp KG,
|
||
Meskis MA,
|
||
Nabbout R,
|
||
Scheffer IE,
|
||
Wilmshurst J,
|
||
Sullivan J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Jul;63(7):1761-1777.
|
||
Epub 2022 May 12
|
||
doi: 10.1111/epi.17274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35490361" target="_blank">35490361</a><a href="/pmc/articles/PMC9543220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
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Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" 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%207%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 (856)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38612920">X-Linked Epilepsies: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardo P,
|
||
Cuccurullo C,
|
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Rubino M,
|
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De Vita G,
|
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Terrone G,
|
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Bilo L,
|
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Coppola A</span><br />
|
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<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 8;25(7)
|
||
doi: 10.3390/ijms25074110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38612920" target="_blank">38612920</a><a href="/pmc/articles/PMC11012983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37699031">Brain tumor-related epilepsy management: A Society for Neuro-oncology (SNO) consensus review on current management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avila EK,
|
||
Tobochnik S,
|
||
Inati SK,
|
||
Koekkoek JAF,
|
||
McKhann GM,
|
||
Riviello JJ,
|
||
Rudà R,
|
||
Schiff D,
|
||
Tatum WO,
|
||
Templer JW,
|
||
Weller M,
|
||
Wen PY</span><br />
|
||
<span class="medgenPMjournal">Neuro Oncol</span>
|
||
2024 Jan 5;26(1):7-24.
|
||
doi: 10.1093/neuonc/noad154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37699031" target="_blank">37699031</a><a href="/pmc/articles/PMC10768995" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35490361">International consensus on diagnosis and management of Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirrell EC,
|
||
Hood V,
|
||
Knupp KG,
|
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Meskis MA,
|
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Nabbout R,
|
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Scheffer IE,
|
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Wilmshurst J,
|
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Sullivan J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Jul;63(7):1761-1777.
|
||
Epub 2022 May 12
|
||
doi: 10.1111/epi.17274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35490361" target="_blank">35490361</a><a href="/pmc/articles/PMC9543220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215386">Epilepsy: Epileptic Syndromes and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyayan A,
|
||
Diaz-Medina G</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):779-795.
|
||
doi: 10.1016/j.ncl.2021.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215386" target="_blank">34215386</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%207%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 (705)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37699031">Brain tumor-related epilepsy management: A Society for Neuro-oncology (SNO) consensus review on current management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avila EK,
|
||
Tobochnik S,
|
||
Inati SK,
|
||
Koekkoek JAF,
|
||
McKhann GM,
|
||
Riviello JJ,
|
||
Rudà R,
|
||
Schiff D,
|
||
Tatum WO,
|
||
Templer JW,
|
||
Weller M,
|
||
Wen PY</span><br />
|
||
<span class="medgenPMjournal">Neuro Oncol</span>
|
||
2024 Jan 5;26(1):7-24.
|
||
doi: 10.1093/neuonc/noad154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37699031" target="_blank">37699031</a><a href="/pmc/articles/PMC10768995" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36806388">Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aronica E,
|
||
Specchio N,
|
||
Luinenburg MJ,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Jul 3;146(7):2694-2710.
|
||
doi: 10.1093/brain/awad048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36806388" target="_blank">36806388</a><a href="/pmc/articles/PMC10316778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35499850">Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
|
||
Scheffer IE,
|
||
Ceulemans B,
|
||
Sullivan JE,
|
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Nickels KC,
|
||
Lagae L,
|
||
Guerrini R,
|
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Zuberi SM,
|
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Nabbout R,
|
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Riney K,
|
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Shore S,
|
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Agarwal A,
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Lock M,
|
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Farfel GM,
|
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Galer BS,
|
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Gammaitoni AR,
|
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Davis R,
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Gil-Nagel A</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2022 Jun 1;79(6):554-564.
|
||
doi: 10.1001/jamaneurol.2022.0829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35499850" target="_blank">35499850</a><a href="/pmc/articles/PMC9062770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
||
Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27372845">Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bikson M,
|
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Grossman P,
|
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Thomas C,
|
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Zannou AL,
|
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Jiang J,
|
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Adnan T,
|
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Mourdoukoutas AP,
|
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Kronberg G,
|
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Truong D,
|
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Boggio P,
|
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Brunoni AR,
|
||
Charvet L,
|
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Fregni F,
|
||
Fritsch B,
|
||
Gillick B,
|
||
Hamilton RH,
|
||
Hampstead BM,
|
||
Jankord R,
|
||
Kirton A,
|
||
Knotkova H,
|
||
Liebetanz D,
|
||
Liu A,
|
||
Loo C,
|
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Nitsche MA,
|
||
Reis J,
|
||
Richardson JD,
|
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Rotenberg A,
|
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Turkeltaub PE,
|
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Woods AJ</span><br />
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<span class="medgenPMjournal">Brain Stimul</span>
|
||
2016 Sep-Oct;9(5):641-661.
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Epub 2016 Jun 15
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doi: 10.1016/j.brs.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27372845" target="_blank">27372845</a><a href="/pmc/articles/PMC5007190" 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%207%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (376)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37699031">Brain tumor-related epilepsy management: A Society for Neuro-oncology (SNO) consensus review on current management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avila EK,
|
||
Tobochnik S,
|
||
Inati SK,
|
||
Koekkoek JAF,
|
||
McKhann GM,
|
||
Riviello JJ,
|
||
Rudà R,
|
||
Schiff D,
|
||
Tatum WO,
|
||
Templer JW,
|
||
Weller M,
|
||
Wen PY</span><br />
|
||
<span class="medgenPMjournal">Neuro Oncol</span>
|
||
2024 Jan 5;26(1):7-24.
|
||
doi: 10.1093/neuonc/noad154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37699031" target="_blank">37699031</a><a href="/pmc/articles/PMC10768995" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36806388">Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aronica E,
|
||
Specchio N,
|
||
Luinenburg MJ,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Jul 3;146(7):2694-2710.
|
||
doi: 10.1093/brain/awad048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36806388" target="_blank">36806388</a><a href="/pmc/articles/PMC10316778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687210">Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Symonds JD,
|
||
Elliott KS,
|
||
Shetty J,
|
||
Armstrong M,
|
||
Brunklaus A,
|
||
Cutcutache I,
|
||
Diver LA,
|
||
Dorris L,
|
||
Gardiner S,
|
||
Jollands A,
|
||
Joss S,
|
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Kirkpatrick M,
|
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McLellan A,
|
||
MacLeod S,
|
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O'Regan M,
|
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Page M,
|
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Pilley E,
|
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Pilz DT,
|
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Stephen E,
|
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Stewart K,
|
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Ashrafian H,
|
||
Knight JC,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2021 Oct 22;144(9):2879-2891.
|
||
doi: 10.1093/brain/awab162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687210" target="_blank">34687210</a><a href="/pmc/articles/PMC8557326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215386">Epilepsy: Epileptic Syndromes and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyayan A,
|
||
Diaz-Medina G</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):779-795.
|
||
doi: 10.1016/j.ncl.2021.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215386" target="_blank">34215386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27372845">Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bikson M,
|
||
Grossman P,
|
||
Thomas C,
|
||
Zannou AL,
|
||
Jiang J,
|
||
Adnan T,
|
||
Mourdoukoutas AP,
|
||
Kronberg G,
|
||
Truong D,
|
||
Boggio P,
|
||
Brunoni AR,
|
||
Charvet L,
|
||
Fregni F,
|
||
Fritsch B,
|
||
Gillick B,
|
||
Hamilton RH,
|
||
Hampstead BM,
|
||
Jankord R,
|
||
Kirton A,
|
||
Knotkova H,
|
||
Liebetanz D,
|
||
Liu A,
|
||
Loo C,
|
||
Nitsche MA,
|
||
Reis J,
|
||
Richardson JD,
|
||
Rotenberg A,
|
||
Turkeltaub PE,
|
||
Woods AJ</span><br />
|
||
<span class="medgenPMjournal">Brain Stimul</span>
|
||
2016 Sep-Oct;9(5):641-661.
|
||
Epub 2016 Jun 15
|
||
doi: 10.1016/j.brs.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27372845" target="_blank">27372845</a><a href="/pmc/articles/PMC5007190" 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%207%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 (472)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37750463">Dravet syndrome: A systematic literature review of the illness burden.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
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Lagae L,
|
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Wilmshurst JM,
|
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Brunklaus A,
|
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Striano P,
|
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Rosenow F,
|
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Schubert-Bast S</span><br />
|
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<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1256-1270.
|
||
Epub 2023 Oct 11
|
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doi: 10.1002/epi4.12832.
|
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<span class="bold">PMID: </span><a href="/pubmed/37750463" target="_blank">37750463</a><a href="/pmc/articles/PMC10690674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36192182">The Phenotypic Continuum of ATP1A3-Related Disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vezyroglou A,
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Akilapa R,
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Barwick K,
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Koene S,
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Brownstein CA,
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Holder-Espinasse M,
|
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Fry AE,
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Németh AH,
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Tofaris GK,
|
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Hay E,
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Hughes I,
|
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Mansour S,
|
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Mordekar SR,
|
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Splitt M,
|
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Turnpenny PD,
|
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Demetriou D,
|
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Koopmann TT,
|
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Ruivenkamp CAL,
|
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Agrawal PB,
|
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Carr L,
|
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Clowes V,
|
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Ghali N,
|
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Holder SE,
|
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Radley J,
|
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Male A,
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Sisodiya SM,
|
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Kurian MA,
|
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Cross JH,
|
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Balasubramanian M</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
||
2022 Oct 4;99(14):e1511-e1526.
|
||
Epub 2022 Jul 18
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||
doi: 10.1212/WNL.0000000000200927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36192182" target="_blank">36192182</a><a href="/pmc/articles/PMC9576304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687210">Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Symonds JD,
|
||
Elliott KS,
|
||
Shetty J,
|
||
Armstrong M,
|
||
Brunklaus A,
|
||
Cutcutache I,
|
||
Diver LA,
|
||
Dorris L,
|
||
Gardiner S,
|
||
Jollands A,
|
||
Joss S,
|
||
Kirkpatrick M,
|
||
McLellan A,
|
||
MacLeod S,
|
||
O'Regan M,
|
||
Page M,
|
||
Pilley E,
|
||
Pilz DT,
|
||
Stephen E,
|
||
Stewart K,
|
||
Ashrafian H,
|
||
Knight JC,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2021 Oct 22;144(9):2879-2891.
|
||
doi: 10.1093/brain/awab162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687210" target="_blank">34687210</a><a href="/pmc/articles/PMC8557326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27372845">Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bikson M,
|
||
Grossman P,
|
||
Thomas C,
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||
Zannou AL,
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Jiang J,
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Adnan T,
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||
Mourdoukoutas AP,
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Kronberg G,
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Truong D,
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Boggio P,
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Brunoni AR,
|
||
Charvet L,
|
||
Fregni F,
|
||
Fritsch B,
|
||
Gillick B,
|
||
Hamilton RH,
|
||
Hampstead BM,
|
||
Jankord R,
|
||
Kirton A,
|
||
Knotkova H,
|
||
Liebetanz D,
|
||
Liu A,
|
||
Loo C,
|
||
Nitsche MA,
|
||
Reis J,
|
||
Richardson JD,
|
||
Rotenberg A,
|
||
Turkeltaub PE,
|
||
Woods AJ</span><br />
|
||
<span class="medgenPMjournal">Brain Stimul</span>
|
||
2016 Sep-Oct;9(5):641-661.
|
||
Epub 2016 Jun 15
|
||
doi: 10.1016/j.brs.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27372845" target="_blank">27372845</a><a href="/pmc/articles/PMC5007190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281533">TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Milh M,
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||
Castiglioni C,
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||
Lüthy K,
|
||
Finelli MJ,
|
||
Verstreken P,
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||
Cardon A,
|
||
Stražišar BG,
|
||
Holder JL Jr,
|
||
Lesca G,
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||
Mancardi MM,
|
||
Poulat AL,
|
||
Repetto GM,
|
||
Banka S,
|
||
Bilo L,
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||
Birkeland LE,
|
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Bosch F,
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||
Brockmann K,
|
||
Cross JH,
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Doummar D,
|
||
Félix TM,
|
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Giuliano F,
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Hori M,
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Hüning I,
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Kayserili H,
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Kini U,
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Lees MM,
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||
Meenakshi G,
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Mewasingh L,
|
||
Pagnamenta AT,
|
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Peluso S,
|
||
Mey A,
|
||
Rice GM,
|
||
Rosenfeld JA,
|
||
Taylor JC,
|
||
Troester MM,
|
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Stanley CM,
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Ville D,
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Walkiewicz M,
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Falace A,
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Fassio A,
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Lemke JR,
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Biskup S,
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Tardif J,
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Ajeawung NF,
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Tolun A,
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||
Corbett M,
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Gecz J,
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||
Afawi Z,
|
||
Howell KB,
|
||
Oliver KL,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
de Falco FA,
|
||
Oliver PL,
|
||
Striano P,
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||
Zara F,
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||
Campeau PM,
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||
Sisodiya SM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jul 5;87(1):77-85.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1212/WNL.0000000000002807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281533" target="_blank">27281533</a><a href="/pmc/articles/PMC4932231" 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%207%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 (541)</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/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
|
||
Yang L,
|
||
Xiao F,
|
||
Yan K,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107363.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.eplepsyres.2024.107363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36526544">Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Kaminiów K,
|
||
Yetkin O,
|
||
Tekturk P,
|
||
Baykan B,
|
||
Leiz S,
|
||
Kluger G,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2024 Mar;116:14-23.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/j.seizure.2022.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36526544" target="_blank">36526544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36693334">Peri-Insular Hemispherotomy: A Systematic Review and Institutional Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates CF,
|
||
Malone S,
|
||
Riney K,
|
||
Shah U,
|
||
Wood MJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2023;58(1):18-28.
|
||
Epub 2023 Jan 13
|
||
doi: 10.1159/000529098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36693334" target="_blank">36693334</a><a href="/pmc/articles/PMC10064387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32449680">Safe and sound: Meta-analyzing the Mozart effect on epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sesso G,
|
||
Sicca F</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2020 Jul;131(7):1610-1620.
|
||
Epub 2020 Apr 30
|
||
doi: 10.1016/j.clinph.2020.03.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32449680" target="_blank">32449680</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28729328">Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veroniki AA,
|
||
Rios P,
|
||
Cogo E,
|
||
Straus SE,
|
||
Finkelstein Y,
|
||
Kealey R,
|
||
Reynen E,
|
||
Soobiah C,
|
||
Thavorn K,
|
||
Hutton B,
|
||
Hemmelgarn BR,
|
||
Yazdi F,
|
||
D'Souza J,
|
||
MacDonald H,
|
||
Tricco AC</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2017 Jul 20;7(7):e017248.
|
||
doi: 10.1136/bmjopen-2017-017248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28729328" target="_blank">28729328</a><a href="/pmc/articles/PMC5642793" 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%207%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 (31)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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||
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||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<!-- MedGen supplemental column starts here -->
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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_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=C3150986%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150986%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150986%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (47)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150986%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150986%5bDISCUI%5d" target="_blank">See all (51)</a></total></li>
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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=613720" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=439218" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(%22developmental%20and%20epileptic%20encephalopathy%2C%207%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Developmental%20and%20epileptic%20encephalopathy%2C%207%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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||
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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=602235" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3785[geneid]" target="_blank">View KCNQ2 variations in ClinVar</a></li><li><a href="/nuccore/213021158" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613720" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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||
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||
|
||
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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="http://www.diseaseinfosearch.org/Epileptic+encephalopathy%2C+early+infantile%2C+7/8345" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_7" 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,%207" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13060/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
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||
<div class="portlet_head">
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/20437616" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy,%207" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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||
</li>
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||
<li>
|
||
<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy,%207%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
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||
</div>
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<!-- MedGen supplemental column ends here -->
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<div class="portlet_title">
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||
<h3>Related information</h3>
|
||
</div>
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