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<meta name="keywords" content="C4540411, dee57, developmental and epileptic encephalopathy 57, developmental and epileptic encephalopathy, 57, disease or syndrome, eiee57, epileptic encephalopathy, early infantile, 57, infantile epileptic encephalopathy 57, kcnt2, 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-57 (DEE57) is a neurologic disorder characterized by global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language. Affected individuals have onset of refractory multifocal seizures in the first days or months of life, and may show developmental regression. EEG patterns include hypsarrhythmia, suggesting a clinical diagnosis of West syndrome, background slowing, and epilepsy of infancy with migrating focal seizures (EIMFS). Some patients may have mild dysmorphic features (summary by Ambrosino et al., 2018 and Mao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1621769
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ConceptID=C4540411
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 57<span class="h1sub">(EIEE57; DEE57)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621769</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:">C4540411</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, 57</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="KCNT2 - ID: 343450 - NCBI Gene" href="/gene/343450" class="medgenPMinfo">KCNT2</a> (1q31.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033366" target="_blank">MONDO:0033366</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617771" target="_blank">617771</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-57 (DEE57) is a neurologic disorder characterized by global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language. Affected individuals have onset of refractory multifocal seizures in the first days or months of life, and may show developmental regression. EEG patterns include hypsarrhythmia, suggesting a clinical diagnosis of West syndrome, background slowing, and epilepsy of infancy with migrating focal seizures (EIMFS). Some patients may have mild dysmorphic features (summary by Ambrosino et al., 2018 and Mao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_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_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_108888"><div><strong>Atypical absence seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108888</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.">C0595948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108888">Feature record</a> | <a href="/medgen?term=%22Atypical%20absence%20seizure%22%5BClinical%20Features%5D%20OR%20108888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</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.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_315948"><div><strong>Epileptic spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315948</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.">C1527366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315948">Feature record</a> | <a href="/medgen?term=%22Epileptic%20spasm%22%5BClinical%20Features%5D%20OR%20315948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_766364"><div><strong>Profound global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766364</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A profound delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766364">Feature record</a> | <a href="/medgen?term=%22Profound%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20766364%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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.">C4021759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, 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/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</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.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1815057"><div><strong>Reduced cerebral white matter volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1815057</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.">C5706151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low volume of the white matter of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1815057">Feature record</a> | <a href="/medgen?term=%22Reduced%20cerebral%20white%20matter%20volume%22%5BClinical%20Features%5D%20OR%201815057%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_816157"><div><strong>Staring gaze</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816157</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.">C3809827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the eyes are held permanently wide open.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816157">Feature record</a> | <a href="/medgen?term=%22Staring%20gaze%22%5BClinical%20Features%5D%20OR%20816157%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 eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_816157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Staring gaze</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></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_108888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical absence seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</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_315948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic 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_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_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Profound global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1815057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced cerebral white matter volume</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_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</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></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/37344571">BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engel C,
|
||
Valence S,
|
||
Delplancq G,
|
||
Maroofian R,
|
||
Accogli A,
|
||
Agolini E,
|
||
Alkuraya FS,
|
||
Baglioni V,
|
||
Bagnasco I,
|
||
Becmeur-Lefebvre M,
|
||
Bertini E,
|
||
Borggraefe I,
|
||
Brischoux-Boucher E,
|
||
Bruel AL,
|
||
Brusco A,
|
||
Bubshait DK,
|
||
Cabrol C,
|
||
Cilio MR,
|
||
Cornet MC,
|
||
Coubes C,
|
||
Danhaive O,
|
||
Delague V,
|
||
Denommé-Pichon AS,
|
||
Di Giacomo MC,
|
||
Doco-Fenzy M,
|
||
Engels H,
|
||
Cremer K,
|
||
Gérard M,
|
||
Gleeson JG,
|
||
Heron D,
|
||
Goffeney J,
|
||
Guimier A,
|
||
Harms FL,
|
||
Houlden H,
|
||
Iacomino M,
|
||
Kaiyrzhanov R,
|
||
Kamien B,
|
||
Karimiani EG,
|
||
Kraus D,
|
||
Kuentz P,
|
||
Kutsche K,
|
||
Lederer D,
|
||
Massingham L,
|
||
Mignot C,
|
||
Morris-Rosendahl D,
|
||
Nagarajan L,
|
||
Odent S,
|
||
Ormières C,
|
||
Partlow JN,
|
||
Pasquier L,
|
||
Penney L,
|
||
Philippe C,
|
||
Piccolo G,
|
||
Poulton C,
|
||
Putoux A,
|
||
Rio M,
|
||
Rougeot C,
|
||
Salpietro V,
|
||
Scheffer I,
|
||
Schneider A,
|
||
Srivastava S,
|
||
Straussberg R,
|
||
Striano P,
|
||
Valente EM,
|
||
Venot P,
|
||
Villard L,
|
||
Vitobello A,
|
||
Wagner J,
|
||
Wagner M,
|
||
Zaki MS,
|
||
Zara F,
|
||
Lesca G,
|
||
Yassaee VR,
|
||
Miryounesi M,
|
||
Hashemi-Gorji F,
|
||
Beiraghi M,
|
||
Ashrafzadeh F,
|
||
Galehdari H,
|
||
Walsh C,
|
||
Novelli A,
|
||
Tacke M,
|
||
Sadykova D,
|
||
Maidyrov Y,
|
||
Koneev K,
|
||
Shashkin C,
|
||
Capra V,
|
||
Zamani M,
|
||
Van Maldergem L,
|
||
Burglen L,
|
||
Piard J</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Sep;31(9):1023-1031.
|
||
Epub 2023 Jun 21
|
||
doi: 10.1038/s41431-023-01410-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37344571" target="_blank">37344571</a><a href="/pmc/articles/PMC10474045" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33484700">Treatment Practices and Outcomes in Continuous Spike and Wave during Slow Wave Sleep: A Multicenter Collaboration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumer FM,
|
||
McNamara NA,
|
||
Fine AL,
|
||
Pestana-Knight E,
|
||
Shellhaas RA,
|
||
He Z,
|
||
Arndt DH,
|
||
Gaillard WD,
|
||
Kelley SA,
|
||
Nagan M,
|
||
Ostendorf AP,
|
||
Singhal NS,
|
||
Speltz L,
|
||
Chapman KE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2021 May;232:220-228.e3.
|
||
Epub 2021 Jan 20
|
||
doi: 10.1016/j.jpeds.2021.01.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33484700" target="_blank">33484700</a><a href="/pmc/articles/PMC8934740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2057)%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 (23)</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/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Trinka E,
|
||
Russo E,
|
||
Del Giovane C,
|
||
Matricardi S,
|
||
Meletti S,
|
||
Striano P,
|
||
Damavandi PT,
|
||
Silvestrini M,
|
||
Brigo F</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2023 Oct;83(15):1409-1424.
|
||
Epub 2023 Sep 11
|
||
doi: 10.1007/s40265-023-01936-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
|
||
Kuchenbuch M,
|
||
Barcia G,
|
||
Schneider A,
|
||
Jennesson M,
|
||
Le Guyader G,
|
||
Lesca G,
|
||
Mignot C,
|
||
Montomoli M,
|
||
Parrini E,
|
||
Isnard H,
|
||
Rolland A,
|
||
Keren B,
|
||
Afenjar A,
|
||
Dorison N,
|
||
Sadleir LG,
|
||
Breuillard D,
|
||
Levy R,
|
||
Rio M,
|
||
Dupont S,
|
||
Negrin S,
|
||
Danieli A,
|
||
Scalais E,
|
||
De Saint Martin A,
|
||
El Chehadeh S,
|
||
Chelly J,
|
||
Poisson A,
|
||
Lebre AS,
|
||
Nica A,
|
||
Odent S,
|
||
Sekhara T,
|
||
Brankovic V,
|
||
Goldenberg A,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Maurey H,
|
||
Terrone G,
|
||
Besmond C,
|
||
Hubert L,
|
||
Berquin P,
|
||
Billette de Villemeur T,
|
||
Isidor B,
|
||
Freeman JL,
|
||
Mefford HC,
|
||
Myers CT,
|
||
Howell KB,
|
||
Rodríguez-Sacristán Cascajo A,
|
||
Meyer P,
|
||
Genevieve D,
|
||
Guët A,
|
||
Doummar D,
|
||
Durigneux J,
|
||
van Dooren MF,
|
||
de Wit MCY,
|
||
Gerard M,
|
||
Marey I,
|
||
Munnich A,
|
||
Guerrini R,
|
||
Scheffer IE,
|
||
Kabashi E,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Nov;61(11):2461-2473.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/epi.16679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</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/27207608">Involvement of microRNAs in epileptogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cattani AA,
|
||
Allene C,
|
||
Seifert V,
|
||
Rosenow F,
|
||
Henshall DC,
|
||
Freiman TM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2016 Jul;57(7):1015-26.
|
||
Epub 2016 May 21
|
||
doi: 10.1111/epi.13404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27207608" target="_blank">27207608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" 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%2057%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 (180)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Trinka E,
|
||
Russo E,
|
||
Del Giovane C,
|
||
Matricardi S,
|
||
Meletti S,
|
||
Striano P,
|
||
Damavandi PT,
|
||
Silvestrini M,
|
||
Brigo F</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2023 Oct;83(15):1409-1424.
|
||
Epub 2023 Sep 11
|
||
doi: 10.1007/s40265-023-01936-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36750385">Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donnan AM,
|
||
Schneider AL,
|
||
Russ-Hall S,
|
||
Churilov L,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Apr 18;100(16):e1712-e1722.
|
||
Epub 2023 Feb 7
|
||
doi: 10.1212/WNL.0000000000207080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36750385" target="_blank">36750385</a><a href="/pmc/articles/PMC10115508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34374989">Spectrum of neuro-genetic disorders in the United Arab Emirates national population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleh S,
|
||
Beyyumi E,
|
||
Al Kaabi A,
|
||
Hertecant J,
|
||
Barakat D,
|
||
Al Dhaheri NS,
|
||
Al-Gazali L,
|
||
Al Shamsi A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Nov;100(5):573-600.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1111/cge.14044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34374989" target="_blank">34374989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31175295">Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata A,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Mizuguchi T,
|
||
Mitsuhashi S,
|
||
Takahashi Y,
|
||
Okamoto N,
|
||
Osaka H,
|
||
Nakamura K,
|
||
Tohyama J,
|
||
Haginoya K,
|
||
Takeshita S,
|
||
Kuki I,
|
||
Okanishi T,
|
||
Goto T,
|
||
Sasaki M,
|
||
Sakai Y,
|
||
Miyake N,
|
||
Miyatake S,
|
||
Tsuchida N,
|
||
Iwama K,
|
||
Minase G,
|
||
Sekiguchi F,
|
||
Fujita A,
|
||
Imagawa E,
|
||
Koshimizu E,
|
||
Uchiyama Y,
|
||
Hamanaka K,
|
||
Ohba C,
|
||
Itai T,
|
||
Aoi H,
|
||
Saida K,
|
||
Sakaguchi T,
|
||
Den K,
|
||
Takahashi R,
|
||
Ikeda H,
|
||
Yamaguchi T,
|
||
Tsukamoto K,
|
||
Yoshitomi S,
|
||
Oboshi T,
|
||
Imai K,
|
||
Kimizu T,
|
||
Kobayashi Y,
|
||
Kubota M,
|
||
Kashii H,
|
||
Baba S,
|
||
Iai M,
|
||
Kira R,
|
||
Hara M,
|
||
Ohta M,
|
||
Miyata Y,
|
||
Miyata R,
|
||
Takanashi JI,
|
||
Matsui J,
|
||
Yokochi K,
|
||
Shimono M,
|
||
Amamoto M,
|
||
Takayama R,
|
||
Hirabayashi S,
|
||
Aiba K,
|
||
Matsumoto H,
|
||
Nabatame S,
|
||
Shiihara T,
|
||
Kato M,
|
||
Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Jun 7;10(1):2506.
|
||
doi: 10.1038/s41467-019-10482-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31175295" target="_blank">31175295</a><a href="/pmc/articles/PMC6555845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2057%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 (140)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Trinka E,
|
||
Russo E,
|
||
Del Giovane C,
|
||
Matricardi S,
|
||
Meletti S,
|
||
Striano P,
|
||
Damavandi PT,
|
||
Silvestrini M,
|
||
Brigo F</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2023 Oct;83(15):1409-1424.
|
||
Epub 2023 Sep 11
|
||
doi: 10.1007/s40265-023-01936-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37458529">Epilepsy surgery in early infancy: A retrospective, multicenter study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Makridis KL,
|
||
Klotz KA,
|
||
Ramantani G,
|
||
Becker LL,
|
||
San Antonio-Arce V,
|
||
Syrbe S,
|
||
Wagner K,
|
||
Shah MJ,
|
||
Thomale UW,
|
||
Tietze A,
|
||
Elger CE,
|
||
Borggraefe I,
|
||
Kaindl AM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Sep;8(3):1182-1189.
|
||
Epub 2023 Jul 23
|
||
doi: 10.1002/epi4.12791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37458529" target="_blank">37458529</a><a href="/pmc/articles/PMC10472416" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34922162">Vaccination and childhood epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craiu D,
|
||
Rener Primec Z,
|
||
Lagae L,
|
||
Vigevano F,
|
||
Trinka E,
|
||
Specchio N,
|
||
Bakhtadze S,
|
||
Cazacu C,
|
||
Golli T,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Jan;36:57-68.
|
||
Epub 2021 Dec 3
|
||
doi: 10.1016/j.ejpn.2021.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34922162" target="_blank">34922162</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/27207608">Involvement of microRNAs in epileptogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cattani AA,
|
||
Allene C,
|
||
Seifert V,
|
||
Rosenow F,
|
||
Henshall DC,
|
||
Freiman TM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2016 Jul;57(7):1015-26.
|
||
Epub 2016 May 21
|
||
doi: 10.1111/epi.13404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27207608" target="_blank">27207608</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2057%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 (84)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33063863">Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matricardi S,
|
||
De Liso P,
|
||
Freri E,
|
||
Costa P,
|
||
Castellotti B,
|
||
Magri S,
|
||
Gellera C,
|
||
Granata T,
|
||
Musante L,
|
||
Lesca G,
|
||
Oertel J,
|
||
Craiu D,
|
||
Hammer TB,
|
||
Møller RS,
|
||
Barisic N,
|
||
Abou Jamra R,
|
||
Polster T,
|
||
Vigevano F,
|
||
Marini C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Nov;61(11):2474-2485.
|
||
Epub 2020 Oct 16
|
||
doi: 10.1111/epi.16699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33063863" target="_blank">33063863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
|
||
Kuchenbuch M,
|
||
Barcia G,
|
||
Schneider A,
|
||
Jennesson M,
|
||
Le Guyader G,
|
||
Lesca G,
|
||
Mignot C,
|
||
Montomoli M,
|
||
Parrini E,
|
||
Isnard H,
|
||
Rolland A,
|
||
Keren B,
|
||
Afenjar A,
|
||
Dorison N,
|
||
Sadleir LG,
|
||
Breuillard D,
|
||
Levy R,
|
||
Rio M,
|
||
Dupont S,
|
||
Negrin S,
|
||
Danieli A,
|
||
Scalais E,
|
||
De Saint Martin A,
|
||
El Chehadeh S,
|
||
Chelly J,
|
||
Poisson A,
|
||
Lebre AS,
|
||
Nica A,
|
||
Odent S,
|
||
Sekhara T,
|
||
Brankovic V,
|
||
Goldenberg A,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Maurey H,
|
||
Terrone G,
|
||
Besmond C,
|
||
Hubert L,
|
||
Berquin P,
|
||
Billette de Villemeur T,
|
||
Isidor B,
|
||
Freeman JL,
|
||
Mefford HC,
|
||
Myers CT,
|
||
Howell KB,
|
||
Rodríguez-Sacristán Cascajo A,
|
||
Meyer P,
|
||
Genevieve D,
|
||
Guët A,
|
||
Doummar D,
|
||
Durigneux J,
|
||
van Dooren MF,
|
||
de Wit MCY,
|
||
Gerard M,
|
||
Marey I,
|
||
Munnich A,
|
||
Guerrini R,
|
||
Scheffer IE,
|
||
Kabashi E,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Nov;61(11):2461-2473.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/epi.16679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27838190">Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Callaghan FJ,
|
||
Edwards SW,
|
||
Alber FD,
|
||
Hancock E,
|
||
Johnson AL,
|
||
Kennedy CR,
|
||
Likeman M,
|
||
Lux AL,
|
||
Mackay M,
|
||
Mallick AA,
|
||
Newton RW,
|
||
Nolan M,
|
||
Pressler R,
|
||
Rating D,
|
||
Schmitt B,
|
||
Verity CM,
|
||
Osborne JP;
|
||
participating investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2017 Jan;16(1):33-42.
|
||
Epub 2016 Nov 10
|
||
doi: 10.1016/S1474-4422(16)30294-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27838190" target="_blank">27838190</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7642889">Clobazam for intractable pediatric epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheth RD,
|
||
Ronen GM,
|
||
Goulden KJ,
|
||
Penney S,
|
||
Bodensteiner JB</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1995 May;10(3):205-8.
|
||
doi: 10.1177/088307389501000306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7642889" target="_blank">7642889</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2057%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 (97)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37517035">Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maroofian R,
|
||
Kaiyrzhanov R,
|
||
Cali E,
|
||
Zamani M,
|
||
Zaki MS,
|
||
Ferla M,
|
||
Tortora D,
|
||
Sadeghian S,
|
||
Saadi SM,
|
||
Abdullah U,
|
||
Karimiani EG,
|
||
Efthymiou S,
|
||
Yeşil G,
|
||
Alavi S,
|
||
Al Shamsi AM,
|
||
Tajsharghi H,
|
||
Abdel-Hamid MS,
|
||
Saadi NW,
|
||
Al Mutairi F,
|
||
Alabdi L,
|
||
Beetz C,
|
||
Ali Z,
|
||
Toosi MB,
|
||
Rudnik-Schöneborn S,
|
||
Babaei M,
|
||
Isohanni P,
|
||
Muhammad J,
|
||
Khan S,
|
||
Al Shalan M,
|
||
Hickey SE,
|
||
Marom D,
|
||
Elhanan E,
|
||
Kurian MA,
|
||
Marafi D,
|
||
Saberi A,
|
||
Hamid M,
|
||
Spaull R,
|
||
Meng L,
|
||
Lalani S,
|
||
Maqbool S,
|
||
Rahman F,
|
||
Seeger J,
|
||
Palculict TB,
|
||
Lau T,
|
||
Murphy D,
|
||
Mencacci NE,
|
||
Steindl K,
|
||
Begemann A,
|
||
Rauch A,
|
||
Akbas S,
|
||
Aslanger AD,
|
||
Salpietro V,
|
||
Yousaf H,
|
||
Ben-Shachar S,
|
||
Ejeskär K,
|
||
Al Aqeel AI,
|
||
High FA,
|
||
Armstrong-Javors AE,
|
||
Zahraei SM,
|
||
Seifi T,
|
||
Zeighami J,
|
||
Shariati G,
|
||
Sedaghat A,
|
||
Asl SN,
|
||
Shahrooei M,
|
||
Zifarelli G,
|
||
Burglen L,
|
||
Ravelli C,
|
||
Zschocke J,
|
||
Schatz UA,
|
||
Ghavideldarestani M,
|
||
Kamel WA,
|
||
Van Esch H,
|
||
Hackenberg A,
|
||
Taylor JC,
|
||
Al-Gazali L,
|
||
Bauer P,
|
||
Gleeson JJ,
|
||
Alkuraya FS,
|
||
Lupski JR,
|
||
Galehdari H,
|
||
Azizimalamiri R,
|
||
Chung WK,
|
||
Baig SM,
|
||
Houlden H,
|
||
Severino M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5031-5043.
|
||
doi: 10.1093/brain/awad257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37517035" target="_blank">37517035</a><a href="/pmc/articles/PMC10690011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36750385">Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donnan AM,
|
||
Schneider AL,
|
||
Russ-Hall S,
|
||
Churilov L,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Apr 18;100(16):e1712-e1722.
|
||
Epub 2023 Feb 7
|
||
doi: 10.1212/WNL.0000000000207080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36750385" target="_blank">36750385</a><a href="/pmc/articles/PMC10115508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31175295">Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata A,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Mizuguchi T,
|
||
Mitsuhashi S,
|
||
Takahashi Y,
|
||
Okamoto N,
|
||
Osaka H,
|
||
Nakamura K,
|
||
Tohyama J,
|
||
Haginoya K,
|
||
Takeshita S,
|
||
Kuki I,
|
||
Okanishi T,
|
||
Goto T,
|
||
Sasaki M,
|
||
Sakai Y,
|
||
Miyake N,
|
||
Miyatake S,
|
||
Tsuchida N,
|
||
Iwama K,
|
||
Minase G,
|
||
Sekiguchi F,
|
||
Fujita A,
|
||
Imagawa E,
|
||
Koshimizu E,
|
||
Uchiyama Y,
|
||
Hamanaka K,
|
||
Ohba C,
|
||
Itai T,
|
||
Aoi H,
|
||
Saida K,
|
||
Sakaguchi T,
|
||
Den K,
|
||
Takahashi R,
|
||
Ikeda H,
|
||
Yamaguchi T,
|
||
Tsukamoto K,
|
||
Yoshitomi S,
|
||
Oboshi T,
|
||
Imai K,
|
||
Kimizu T,
|
||
Kobayashi Y,
|
||
Kubota M,
|
||
Kashii H,
|
||
Baba S,
|
||
Iai M,
|
||
Kira R,
|
||
Hara M,
|
||
Ohta M,
|
||
Miyata Y,
|
||
Miyata R,
|
||
Takanashi JI,
|
||
Matsui J,
|
||
Yokochi K,
|
||
Shimono M,
|
||
Amamoto M,
|
||
Takayama R,
|
||
Hirabayashi S,
|
||
Aiba K,
|
||
Matsumoto H,
|
||
Nabatame S,
|
||
Shiihara T,
|
||
Kato M,
|
||
Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Jun 7;10(1):2506.
|
||
doi: 10.1038/s41467-019-10482-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31175295" target="_blank">31175295</a><a href="/pmc/articles/PMC6555845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27207608">Involvement of microRNAs in epileptogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cattani AA,
|
||
Allene C,
|
||
Seifert V,
|
||
Rosenow F,
|
||
Henshall DC,
|
||
Freiman TM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2016 Jul;57(7):1015-26.
|
||
Epub 2016 May 21
|
||
doi: 10.1111/epi.13404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27207608" target="_blank">27207608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" 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%2057%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 (100)</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/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Trinka E,
|
||
Russo E,
|
||
Del Giovane C,
|
||
Matricardi S,
|
||
Meletti S,
|
||
Striano P,
|
||
Damavandi PT,
|
||
Silvestrini M,
|
||
Brigo F</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2023 Oct;83(15):1409-1424.
|
||
Epub 2023 Sep 11
|
||
doi: 10.1007/s40265-023-01936-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36774775">Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arfaie S,
|
||
Amin P,
|
||
Kwan ATH,
|
||
Solgi A,
|
||
Sarabi A,
|
||
Hakak-Zargar B,
|
||
Brunette-Clément T,
|
||
Pushenko D,
|
||
Mir-Moghtadaei K,
|
||
Mashayekhi MS,
|
||
Mofatteh M,
|
||
Honarvar F,
|
||
Ren LY,
|
||
Noiseux-Lush C,
|
||
Azizi Z,
|
||
Pearl PL,
|
||
Baldeweg T,
|
||
Weil AG,
|
||
Fallah A</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2023 Mar;106:58-67.
|
||
Epub 2023 Feb 1
|
||
doi: 10.1016/j.seizure.2023.01.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36774775" target="_blank">36774775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36183177">Minimally invasive procedures for hypothalamic hamartoma-related epilepsy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iranmehr A,
|
||
Dabbagh Ohadi MA,
|
||
Chavoshi M,
|
||
Jahanbakhshi A,
|
||
Slavin KV</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2022 Oct;53(4):E8.
|
||
doi: 10.3171/2022.7.FOCUS22296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36183177" target="_blank">36183177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34922162">Vaccination and childhood epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craiu D,
|
||
Rener Primec Z,
|
||
Lagae L,
|
||
Vigevano F,
|
||
Trinka E,
|
||
Specchio N,
|
||
Bakhtadze S,
|
||
Cazacu C,
|
||
Golli T,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Jan;36:57-68.
|
||
Epub 2021 Dec 3
|
||
doi: 10.1016/j.ejpn.2021.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34922162" target="_blank">34922162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33561679">Sleep disruption in children and adolescents with epilepsy: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winsor AA,
|
||
Richards C,
|
||
Bissell S,
|
||
Seri S,
|
||
Liew A,
|
||
Bagshaw AP</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2021 Jun;57:101416.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.smrv.2021.101416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33561679" target="_blank">33561679</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2057%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 (8)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4540411%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
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<li><a href="/gtr/tests?term=C4540411%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
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