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<meta name="keywords" content="C3809606, dee17, developmental and epileptic encephalopathy 17, developmental and epileptic encephalopathy, 17, disease or syndrome, early infantile epileptic encephalopathy 17, early infantile epileptic encephalopathy caused by mutation in gnao1, early infantile epileptic encephalopathy-17, eiee17, epileptic encephalopathy, early infantile, 17, epileptic encephalopathy, early infantile, type 17, gnao1, gnao1 early infantile epileptic encephalopathy, gnao1 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="GNAO1-related disorder encompasses a broad phenotypic continuum that includes hyperkinetic movement disorders and/or epilepsy and is typically associated with developmental delay and intellectual disability. Viewed by age of onset, three clusters in this continuum can be observed: (1) infantile-onset developmental and epileptic encephalopathy (DEE) with or without prominent movement disorder; (2) infantile- or early childhood-onset prominent movement disorder and neurodevelopmental disorder with or without childhood-onset epilepsy with varying seizure types; (3) later childhood- or adult-onset movement disorder with variable developmental delay and intellectual disability. Epilepsy can be either DEE (onset typically within the first year of life of drug-resistant epilepsy in which developmental delays are attributed to the underlying diagnosis as well as the impact of uncontrolled seizures) or varying seizure types (onset typically between ages three and ten years of focal or generalized tonic-clonic seizures that may be infrequent or well controlled with anti-seizure medications). Movement disorders are characterized by dystonia and choreoathetosis, most commonly a mixed pattern of persistent or paroxysmal dyskinesia that affects the whole body. Exacerbations of the hyperkinetic movement disorder, which can be spontaneous or triggered (e.g., by intercurrent illness, emotional stress, voluntary movements), can last minutes to weeks. Hyperkinetic crises (including status dystonicus) are characterized by temporarily increased and nearly continuous involuntary movements or dystonic posturing that can be life-threatening. Deaths in early childhood have been reported due to medically refractory epilepsy or hyperkinetic crises, but the phenotypic spectrum includes milder presentations, including in adults. As many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with GNAO1-related disorder are underrecognized and underreported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=815936
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||
ConceptID=C3809606
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 17<span class="h1sub">(DEE17)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815936</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:">C3809606</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>DEE17; Early infantile epileptic encephalopathy 17</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="GNAO1 - ID: 2775 - NCBI Gene" href="/gene/2775" class="medgenPMinfo">GNAO1</a> (16q13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014199" target="_blank">MONDO:0014199</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615473" target="_blank">615473</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/NBK597155" target="_blank">GNAO1-Related Disorder</a></div><div>GNAO1-related disorder encompasses a broad phenotypic continuum that includes hyperkinetic movement disorders and/or epilepsy and is typically associated with developmental delay and intellectual disability. Viewed by age of onset, three clusters in this continuum can be observed: (1) infantile-onset developmental and epileptic encephalopathy (DEE) with or without prominent movement disorder; (2) infantile- or early childhood-onset prominent movement disorder and neurodevelopmental disorder with or without childhood-onset epilepsy with varying seizure types; (3) later childhood- or adult-onset movement disorder with variable developmental delay and intellectual disability. Epilepsy can be either DEE (onset typically within the first year of life of drug-resistant epilepsy in which developmental delays are attributed to the underlying diagnosis as well as the impact of uncontrolled seizures) or varying seizure types (onset typically between ages three and ten years of focal or generalized tonic-clonic seizures that may be infrequent or well controlled with anti-seizure medications). Movement disorders are characterized by dystonia and choreoathetosis, most commonly a mixed pattern of persistent or paroxysmal dyskinesia that affects the whole body. Exacerbations of the hyperkinetic movement disorder, which can be spontaneous or triggered (e.g., by intercurrent illness, emotional stress, voluntary movements), can last minutes to weeks. Hyperkinetic crises (including status dystonicus) are characterized by temporarily increased and nearly continuous involuntary movements or dystonic posturing that can be life-threatening. Deaths in early childhood have been reported due to medically refractory epilepsy or hyperkinetic crises, but the phenotypic spectrum includes milder presentations, including in adults. As many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with GNAO1-related disorder are underrecognized and underreported. [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/NBK597155#gnao1-dis.Summary" target="NBK597155">Summary</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.GeneReview_Scope" target="NBK597155">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Diagnosis" target="NBK597155">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Clinical_Characteristics" target="NBK597155">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Genetically_Related_Allelic_Di" target="NBK597155">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Differential_Diagnosis" target="NBK597155">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Management" target="NBK597155">Management</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Genetic_Counseling" target="NBK597155">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Resources" target="NBK597155">Resources</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Molecular_Genetics" target="NBK597155">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.Chapter_Notes" target="NBK597155">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK597155#gnao1-dis.References" target="NBK597155">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Lauren Briere | Moritz Thiel | David A Sweetser<i>, et. al.</i> <a href="/books/NBK597155" target="NBK597155" title="NCBI Bookshelf: GNAO1-Related Disorder">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-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. <a target="_blank" href="http://www.omim.org/entry/615473">http://www.omim.org/entry/615473</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_2115"><div><strong>Athetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2115</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.">C0004158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2115">Feature record</a> | <a href="/medgen?term=%22Athetosis%22%5BClinical%20Features%5D%20OR%202115%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3420"><div><strong>Chorea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3420</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.">C0008489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3420">Feature record</a> | <a href="/medgen?term=%22Chorea%22%5BClinical%20Features%5D%20OR%203420%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%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_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</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.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%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_199867"><div><strong>Focal tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199867</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.">C0752324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199867">Feature record</a> | <a href="/medgen?term=%22Focal%20tonic%20seizure%22%5BClinical%20Features%5D%20OR%20199867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322935"><div><strong>Generalized tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322935</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.">C1836508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322935">Feature record</a> | <a href="/medgen?term=%22Generalized%20tonic%20seizure%22%5BClinical%20Features%5D%20OR%20322935%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_867393"><div><strong>Delayed CNS myelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867393</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.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Athetosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed CNS myelination</a></span></li><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_199867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal tonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized tonic 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_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</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/38881224">Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lasa-Aranzasti A,
|
||
Larasati YA,
|
||
da Silva Cardoso J,
|
||
Solis GP,
|
||
Koval A,
|
||
Cazurro-Gutiérrez A,
|
||
Ortigoza-Escobar JD,
|
||
Miranda MC,
|
||
De la Casa-Fages B,
|
||
Moreno-Galdó A,
|
||
Tizzano EF,
|
||
Gómez-Andrés D,
|
||
Verdura E,
|
||
Katanaev VL,
|
||
Pérez-Dueñas B;
|
||
Study Group of GNAO1 patients from Spain</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2024 Sep;39(9):1578-1591.
|
||
Epub 2024 Jun 16
|
||
doi: 10.1002/mds.29881.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38881224" target="_blank">38881224</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22developmental%20and%20epileptic%20encephalopathy%2C%2017%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/34893972">Genetic testing for the epilepsies: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheidley BR,
|
||
Malinowski J,
|
||
Bergner AL,
|
||
Bier L,
|
||
Gloss DS,
|
||
Mu W,
|
||
Mulhern MM,
|
||
Partack EJ,
|
||
Poduri A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Feb;63(2):375-387.
|
||
Epub 2021 Dec 10
|
||
doi: 10.1111/epi.17141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34893972" target="_blank">34893972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31161980">Cannabidiol Adverse Effects and Toxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huestis MA,
|
||
Solimini R,
|
||
Pichini S,
|
||
Pacifici R,
|
||
Carlier J,
|
||
Busardò FP</span><br />
|
||
<span class="medgenPMjournal">Curr Neuropharmacol</span>
|
||
2019;17(10):974-989.
|
||
doi: 10.2174/1570159X17666190603171901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31161980" target="_blank">31161980</a><a href="/pmc/articles/PMC7052834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29930110">Analysis of shared heritability in common disorders of the brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brainstorm Consortium,
|
||
Anttila V,
|
||
Bulik-Sullivan B,
|
||
Finucane HK,
|
||
Walters RK,
|
||
Bras J,
|
||
Duncan L,
|
||
Escott-Price V,
|
||
Falcone GJ,
|
||
Gormley P,
|
||
Malik R,
|
||
Patsopoulos NA,
|
||
Ripke S,
|
||
Wei Z,
|
||
Yu D,
|
||
Lee PH,
|
||
Turley P,
|
||
Grenier-Boley B,
|
||
Chouraki V,
|
||
Kamatani Y,
|
||
Berr C,
|
||
Letenneur L,
|
||
Hannequin D,
|
||
Amouyel P,
|
||
Boland A,
|
||
Deleuze JF,
|
||
Duron E,
|
||
Vardarajan BN,
|
||
Reitz C,
|
||
Goate AM,
|
||
Huentelman MJ,
|
||
Kamboh MI,
|
||
Larson EB,
|
||
Rogaeva E,
|
||
St George-Hyslop P,
|
||
Hakonarson H,
|
||
Kukull WA,
|
||
Farrer LA,
|
||
Barnes LL,
|
||
Beach TG,
|
||
Demirci FY,
|
||
Head E,
|
||
Hulette CM,
|
||
Jicha GA,
|
||
Kauwe JSK,
|
||
Kaye JA,
|
||
Leverenz JB,
|
||
Levey AI,
|
||
Lieberman AP,
|
||
Pankratz VS,
|
||
Poon WW,
|
||
Quinn JF,
|
||
Saykin AJ,
|
||
Schneider LS,
|
||
Smith AG,
|
||
Sonnen JA,
|
||
Stern RA,
|
||
Van Deerlin VM,
|
||
Van Eldik LJ,
|
||
Harold D,
|
||
Russo G,
|
||
Rubinsztein DC,
|
||
Bayer A,
|
||
Tsolaki M,
|
||
Proitsi P,
|
||
Fox NC,
|
||
Hampel H,
|
||
Owen MJ,
|
||
Mead S,
|
||
Passmore P,
|
||
Morgan K,
|
||
Nöthen MM,
|
||
Rossor M,
|
||
Lupton MK,
|
||
Hoffmann P,
|
||
Kornhuber J,
|
||
Lawlor B,
|
||
McQuillin A,
|
||
Al-Chalabi A,
|
||
Bis JC,
|
||
Ruiz A,
|
||
Boada M,
|
||
Seshadri S,
|
||
Beiser A,
|
||
Rice K,
|
||
van der Lee SJ,
|
||
De Jager PL,
|
||
Geschwind DH,
|
||
Riemenschneider M,
|
||
Riedel-Heller S,
|
||
Rotter JI,
|
||
Ransmayr G,
|
||
Hyman BT,
|
||
Cruchaga C,
|
||
Alegret M,
|
||
Winsvold B,
|
||
Palta P,
|
||
Farh KH,
|
||
Cuenca-Leon E,
|
||
Furlotte N,
|
||
Kurth T,
|
||
Ligthart L,
|
||
Terwindt GM,
|
||
Freilinger T,
|
||
Ran C,
|
||
Gordon SD,
|
||
Borck G,
|
||
Adams HHH,
|
||
Lehtimäki T,
|
||
Wedenoja J,
|
||
Buring JE,
|
||
Schürks M,
|
||
Hrafnsdottir M,
|
||
Hottenga JJ,
|
||
Penninx B,
|
||
Artto V,
|
||
Kaunisto M,
|
||
Vepsäläinen S,
|
||
Martin NG,
|
||
Montgomery GW,
|
||
Kurki MI,
|
||
Hämäläinen E,
|
||
Huang H,
|
||
Huang J,
|
||
Sandor C,
|
||
Webber C,
|
||
Muller-Myhsok B,
|
||
Schreiber S,
|
||
Salomaa V,
|
||
Loehrer E,
|
||
Göbel H,
|
||
Macaya A,
|
||
Pozo-Rosich P,
|
||
Hansen T,
|
||
Werge T,
|
||
Kaprio J,
|
||
Metspalu A,
|
||
Kubisch C,
|
||
Ferrari MD,
|
||
Belin AC,
|
||
van den Maagdenberg AMJM,
|
||
Zwart JA,
|
||
Boomsma D,
|
||
Eriksson N,
|
||
Olesen J,
|
||
Chasman DI,
|
||
Nyholt DR,
|
||
Avbersek A,
|
||
Baum L,
|
||
Berkovic S,
|
||
Bradfield J,
|
||
Buono RJ,
|
||
Catarino CB,
|
||
Cossette P,
|
||
De Jonghe P,
|
||
Depondt C,
|
||
Dlugos D,
|
||
Ferraro TN,
|
||
French J,
|
||
Hjalgrim H,
|
||
Jamnadas-Khoda J,
|
||
Kälviäinen R,
|
||
Kunz WS,
|
||
Lerche H,
|
||
Leu C,
|
||
Lindhout D,
|
||
Lo W,
|
||
Lowenstein D,
|
||
McCormack M,
|
||
Møller RS,
|
||
Molloy A,
|
||
Ng PW,
|
||
Oliver K,
|
||
Privitera M,
|
||
Radtke R,
|
||
Ruppert AK,
|
||
Sander T,
|
||
Schachter S,
|
||
Schankin C,
|
||
Scheffer I,
|
||
Schoch S,
|
||
Sisodiya SM,
|
||
Smith P,
|
||
Sperling M,
|
||
Striano P,
|
||
Surges R,
|
||
Thomas GN,
|
||
Visscher F,
|
||
Whelan CD,
|
||
Zara F,
|
||
Heinzen EL,
|
||
Marson A,
|
||
Becker F,
|
||
Stroink H,
|
||
Zimprich F,
|
||
Gasser T,
|
||
Gibbs R,
|
||
Heutink P,
|
||
Martinez M,
|
||
Morris HR,
|
||
Sharma M,
|
||
Ryten M,
|
||
Mok KY,
|
||
Pulit S,
|
||
Bevan S,
|
||
Holliday E,
|
||
Attia J,
|
||
Battey T,
|
||
Boncoraglio G,
|
||
Thijs V,
|
||
Chen WM,
|
||
Mitchell B,
|
||
Rothwell P,
|
||
Sharma P,
|
||
Sudlow C,
|
||
Vicente A,
|
||
Markus H,
|
||
Kourkoulis C,
|
||
Pera J,
|
||
Raffeld M,
|
||
Silliman S,
|
||
Boraska Perica V,
|
||
Thornton LM,
|
||
Huckins LM,
|
||
William Rayner N,
|
||
Lewis CM,
|
||
Gratacos M,
|
||
Rybakowski F,
|
||
Keski-Rahkonen A,
|
||
Raevuori A,
|
||
Hudson JI,
|
||
Reichborn-Kjennerud T,
|
||
Monteleone P,
|
||
Karwautz A,
|
||
Mannik K,
|
||
Baker JH,
|
||
O'Toole JK,
|
||
Trace SE,
|
||
Davis OSP,
|
||
Helder SG,
|
||
Ehrlich S,
|
||
Herpertz-Dahlmann B,
|
||
Danner UN,
|
||
van Elburg AA,
|
||
Clementi M,
|
||
Forzan M,
|
||
Docampo E,
|
||
Lissowska J,
|
||
Hauser J,
|
||
Tortorella A,
|
||
Maj M,
|
||
Gonidakis F,
|
||
Tziouvas K,
|
||
Papezova H,
|
||
Yilmaz Z,
|
||
Wagner G,
|
||
Cohen-Woods S,
|
||
Herms S,
|
||
Julià A,
|
||
Rabionet R,
|
||
Dick DM,
|
||
Ripatti S,
|
||
Andreassen OA,
|
||
Espeseth T,
|
||
Lundervold AJ,
|
||
Steen VM,
|
||
Pinto D,
|
||
Scherer SW,
|
||
Aschauer H,
|
||
Schosser A,
|
||
Alfredsson L,
|
||
Padyukov L,
|
||
Halmi KA,
|
||
Mitchell J,
|
||
Strober M,
|
||
Bergen AW,
|
||
Kaye W,
|
||
Szatkiewicz JP,
|
||
Cormand B,
|
||
Ramos-Quiroga JA,
|
||
Sánchez-Mora C,
|
||
Ribasés M,
|
||
Casas M,
|
||
Hervas A,
|
||
Arranz MJ,
|
||
Haavik J,
|
||
Zayats T,
|
||
Johansson S,
|
||
Williams N,
|
||
Dempfle A,
|
||
Rothenberger A,
|
||
Kuntsi J,
|
||
Oades RD,
|
||
Banaschewski T,
|
||
Franke B,
|
||
Buitelaar JK,
|
||
Arias Vasquez A,
|
||
Doyle AE,
|
||
Reif A,
|
||
Lesch KP,
|
||
Freitag C,
|
||
Rivero O,
|
||
Palmason H,
|
||
Romanos M,
|
||
Langley K,
|
||
Rietschel M,
|
||
Witt SH,
|
||
Dalsgaard S,
|
||
Børglum AD,
|
||
Waldman I,
|
||
Wilmot B,
|
||
Molly N,
|
||
Bau CHD,
|
||
Crosbie J,
|
||
Schachar R,
|
||
Loo SK,
|
||
McGough JJ,
|
||
Grevet EH,
|
||
Medland SE,
|
||
Robinson E,
|
||
Weiss LA,
|
||
Bacchelli E,
|
||
Bailey A,
|
||
Bal V,
|
||
Battaglia A,
|
||
Betancur C,
|
||
Bolton P,
|
||
Cantor R,
|
||
Celestino-Soper P,
|
||
Dawson G,
|
||
De Rubeis S,
|
||
Duque F,
|
||
Green A,
|
||
Klauck SM,
|
||
Leboyer M,
|
||
Levitt P,
|
||
Maestrini E,
|
||
Mane S,
|
||
De-Luca DM,
|
||
Parr J,
|
||
Regan R,
|
||
Reichenberg A,
|
||
Sandin S,
|
||
Vorstman J,
|
||
Wassink T,
|
||
Wijsman E,
|
||
Cook E,
|
||
Santangelo S,
|
||
Delorme R,
|
||
Rogé B,
|
||
Magalhaes T,
|
||
Arking D,
|
||
Schulze TG,
|
||
Thompson RC,
|
||
Strohmaier J,
|
||
Matthews K,
|
||
Melle I,
|
||
Morris D,
|
||
Blackwood D,
|
||
McIntosh A,
|
||
Bergen SE,
|
||
Schalling M,
|
||
Jamain S,
|
||
Maaser A,
|
||
Fischer SB,
|
||
Reinbold CS,
|
||
Fullerton JM,
|
||
Guzman-Parra J,
|
||
Mayoral F,
|
||
Schofield PR,
|
||
Cichon S,
|
||
Mühleisen TW,
|
||
Degenhardt F,
|
||
Schumacher J,
|
||
Bauer M,
|
||
Mitchell PB,
|
||
Gershon ES,
|
||
Rice J,
|
||
Potash JB,
|
||
Zandi PP,
|
||
Craddock N,
|
||
Ferrier IN,
|
||
Alda M,
|
||
Rouleau GA,
|
||
Turecki G,
|
||
Ophoff R,
|
||
Pato C,
|
||
Anjorin A,
|
||
Stahl E,
|
||
Leber M,
|
||
Czerski PM,
|
||
Cruceanu C,
|
||
Jones IR,
|
||
Posthuma D,
|
||
Andlauer TFM,
|
||
Forstner AJ,
|
||
Streit F,
|
||
Baune BT,
|
||
Air T,
|
||
Sinnamon G,
|
||
Wray NR,
|
||
MacIntyre DJ,
|
||
Porteous D,
|
||
Homuth G,
|
||
Rivera M,
|
||
Grove J,
|
||
Middeldorp CM,
|
||
Hickie I,
|
||
Pergadia M,
|
||
Mehta D,
|
||
Smit JH,
|
||
Jansen R,
|
||
de Geus E,
|
||
Dunn E,
|
||
Li QS,
|
||
Nauck M,
|
||
Schoevers RA,
|
||
Beekman AT,
|
||
Knowles JA,
|
||
Viktorin A,
|
||
Arnold P,
|
||
Barr CL,
|
||
Bedoya-Berrio G,
|
||
Bienvenu OJ,
|
||
Brentani H,
|
||
Burton C,
|
||
Camarena B,
|
||
Cappi C,
|
||
Cath D,
|
||
Cavallini M,
|
||
Cusi D,
|
||
Darrow S,
|
||
Denys D,
|
||
Derks EM,
|
||
Dietrich A,
|
||
Fernandez T,
|
||
Figee M,
|
||
Freimer N,
|
||
Gerber G,
|
||
Grados M,
|
||
Greenberg E,
|
||
Hanna GL,
|
||
Hartmann A,
|
||
Hirschtritt ME,
|
||
Hoekstra PJ,
|
||
Huang A,
|
||
Huyser C,
|
||
Illmann C,
|
||
Jenike M,
|
||
Kuperman S,
|
||
Leventhal B,
|
||
Lochner C,
|
||
Lyon GJ,
|
||
Macciardi F,
|
||
Madruga-Garrido M,
|
||
Malaty IA,
|
||
Maras A,
|
||
McGrath L,
|
||
Miguel EC,
|
||
Mir P,
|
||
Nestadt G,
|
||
Nicolini H,
|
||
Okun MS,
|
||
Pakstis A,
|
||
Paschou P,
|
||
Piacentini J,
|
||
Pittenger C,
|
||
Plessen K,
|
||
Ramensky V,
|
||
Ramos EM,
|
||
Reus V,
|
||
Richter MA,
|
||
Riddle MA,
|
||
Robertson MM,
|
||
Roessner V,
|
||
Rosário M,
|
||
Samuels JF,
|
||
Sandor P,
|
||
Stein DJ,
|
||
Tsetsos F,
|
||
Van Nieuwerburgh F,
|
||
Weatherall S,
|
||
Wendland JR,
|
||
Wolanczyk T,
|
||
Worbe Y,
|
||
Zai G,
|
||
Goes FS,
|
||
McLaughlin N,
|
||
Nestadt PS,
|
||
Grabe HJ,
|
||
Depienne C,
|
||
Konkashbaev A,
|
||
Lanzagorta N,
|
||
Valencia-Duarte A,
|
||
Bramon E,
|
||
Buccola N,
|
||
Cahn W,
|
||
Cairns M,
|
||
Chong SA,
|
||
Cohen D,
|
||
Crespo-Facorro B,
|
||
Crowley J,
|
||
Davidson M,
|
||
DeLisi L,
|
||
Dinan T,
|
||
Donohoe G,
|
||
Drapeau E,
|
||
Duan J,
|
||
Haan L,
|
||
Hougaard D,
|
||
Karachanak-Yankova S,
|
||
Khrunin A,
|
||
Klovins J,
|
||
Kučinskas V,
|
||
Lee Chee Keong J,
|
||
Limborska S,
|
||
Loughland C,
|
||
Lönnqvist J,
|
||
Maher B,
|
||
Mattheisen M,
|
||
McDonald C,
|
||
Murphy KC,
|
||
Nenadic I,
|
||
van Os J,
|
||
Pantelis C,
|
||
Pato M,
|
||
Petryshen T,
|
||
Quested D,
|
||
Roussos P,
|
||
Sanders AR,
|
||
Schall U,
|
||
Schwab SG,
|
||
Sim K,
|
||
So HC,
|
||
Stögmann E,
|
||
Subramaniam M,
|
||
Toncheva D,
|
||
Waddington J,
|
||
Walters J,
|
||
Weiser M,
|
||
Cheng W,
|
||
Cloninger R,
|
||
Curtis D,
|
||
Gejman PV,
|
||
Henskens F,
|
||
Mattingsdal M,
|
||
Oh SY,
|
||
Scott R,
|
||
Webb B,
|
||
Breen G,
|
||
Churchhouse C,
|
||
Bulik CM,
|
||
Daly M,
|
||
Dichgans M,
|
||
Faraone SV,
|
||
Guerreiro R,
|
||
Holmans P,
|
||
Kendler KS,
|
||
Koeleman B,
|
||
Mathews CA,
|
||
Price A,
|
||
Scharf J,
|
||
Sklar P,
|
||
Williams J,
|
||
Wood NW,
|
||
Cotsapas C,
|
||
Palotie A,
|
||
Smoller JW,
|
||
Sullivan P,
|
||
Rosand J,
|
||
Corvin A,
|
||
Neale BM,
|
||
Schott JM,
|
||
Anney R,
|
||
Elia J,
|
||
Grigoroiu-Serbanescu M,
|
||
Edenberg HJ,
|
||
Murray R</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2018 Jun 22;360(6395)
|
||
doi: 10.1126/science.aap8757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29930110" target="_blank">29930110</a><a href="/pmc/articles/PMC6097237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27571260">Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jenkinson EM,
|
||
Rodero MP,
|
||
Kasher PR,
|
||
Uggenti C,
|
||
Oojageer A,
|
||
Goosey LC,
|
||
Rose Y,
|
||
Kershaw CJ,
|
||
Urquhart JE,
|
||
Williams SG,
|
||
Bhaskar SS,
|
||
O'Sullivan J,
|
||
Baerlocher GM,
|
||
Haubitz M,
|
||
Aubert G,
|
||
Barañano KW,
|
||
Barnicoat AJ,
|
||
Battini R,
|
||
Berger A,
|
||
Blair EM,
|
||
Brunstrom-Hernandez JE,
|
||
Buckard JA,
|
||
Cassiman DM,
|
||
Caumes R,
|
||
Cordelli DM,
|
||
De Waele LM,
|
||
Fay AJ,
|
||
Ferreira P,
|
||
Fletcher NA,
|
||
Fryer AE,
|
||
Goel H,
|
||
Hemingway CA,
|
||
Henneke M,
|
||
Hughes I,
|
||
Jefferson RJ,
|
||
Kumar R,
|
||
Lagae L,
|
||
Landrieu PG,
|
||
Lourenço CM,
|
||
Malpas TJ,
|
||
Mehta SG,
|
||
Metz I,
|
||
Naidu S,
|
||
Õunap K,
|
||
Panzer A,
|
||
Prabhakar P,
|
||
Quaghebeur G,
|
||
Schiffmann R,
|
||
Sherr EH,
|
||
Sinnathuray KR,
|
||
Soh C,
|
||
Stewart HS,
|
||
Stone J,
|
||
Van Esch H,
|
||
Van Mol CE,
|
||
Vanderver A,
|
||
Wakeling EL,
|
||
Whitney A,
|
||
Pavitt GD,
|
||
Griffiths-Jones S,
|
||
Rice GI,
|
||
Revy P,
|
||
van der Knaap MS,
|
||
Livingston JH,
|
||
O'Keefe RT,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2016 Oct;48(10):1185-92.
|
||
Epub 2016 Aug 29
|
||
doi: 10.1038/ng.3661.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27571260" target="_blank">27571260</a><a href="/pmc/articles/PMC5045717" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188686">Cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham HK,
|
||
Rosenbaum P,
|
||
Paneth N,
|
||
Dan B,
|
||
Lin JP,
|
||
Damiano DL,
|
||
Becher JG,
|
||
Gaebler-Spira D,
|
||
Colver A,
|
||
Reddihough DS,
|
||
Crompton KE,
|
||
Lieber RL</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Jan 7;2:15082.
|
||
doi: 10.1038/nrdp.2015.82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188686" target="_blank">27188686</a><a href="/pmc/articles/PMC9619297" 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%2017%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 (459)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35696452">The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
|
||
Brünger T,
|
||
Feng T,
|
||
Fons C,
|
||
Lehikoinen A,
|
||
Panagiotakaki E,
|
||
Vintan MA,
|
||
Symonds J,
|
||
Andrew J,
|
||
Arzimanoglou A,
|
||
Delima S,
|
||
Gallois J,
|
||
Hanrahan D,
|
||
Lesca G,
|
||
MacLeod S,
|
||
Marjanovic D,
|
||
McTague A,
|
||
Nuñez-Enamorado N,
|
||
Perez-Palma E,
|
||
Scott Perry M,
|
||
Pysden K,
|
||
Russ-Hall SJ,
|
||
Scheffer IE,
|
||
Sully K,
|
||
Syrbe S,
|
||
Vaher U,
|
||
Velayutham M,
|
||
Vogt J,
|
||
Weiss S,
|
||
Wirrell E,
|
||
Zuberi SM,
|
||
Lal D,
|
||
Møller RS,
|
||
Mantegazza M,
|
||
Cestèle S</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Nov 21;145(11):3816-3831.
|
||
doi: 10.1093/brain/awac210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35696452" target="_blank">35696452</a><a href="/pmc/articles/PMC9679167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34893972">Genetic testing for the epilepsies: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheidley BR,
|
||
Malinowski J,
|
||
Bergner AL,
|
||
Bier L,
|
||
Gloss DS,
|
||
Mu W,
|
||
Mulhern MM,
|
||
Partack EJ,
|
||
Poduri A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Feb;63(2):375-387.
|
||
Epub 2021 Dec 10
|
||
doi: 10.1111/epi.17141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34893972" target="_blank">34893972</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/29930110">Analysis of shared heritability in common disorders of the brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brainstorm Consortium,
|
||
Anttila V,
|
||
Bulik-Sullivan B,
|
||
Finucane HK,
|
||
Walters RK,
|
||
Bras J,
|
||
Duncan L,
|
||
Escott-Price V,
|
||
Falcone GJ,
|
||
Gormley P,
|
||
Malik R,
|
||
Patsopoulos NA,
|
||
Ripke S,
|
||
Wei Z,
|
||
Yu D,
|
||
Lee PH,
|
||
Turley P,
|
||
Grenier-Boley B,
|
||
Chouraki V,
|
||
Kamatani Y,
|
||
Berr C,
|
||
Letenneur L,
|
||
Hannequin D,
|
||
Amouyel P,
|
||
Boland A,
|
||
Deleuze JF,
|
||
Duron E,
|
||
Vardarajan BN,
|
||
Reitz C,
|
||
Goate AM,
|
||
Huentelman MJ,
|
||
Kamboh MI,
|
||
Larson EB,
|
||
Rogaeva E,
|
||
St George-Hyslop P,
|
||
Hakonarson H,
|
||
Kukull WA,
|
||
Farrer LA,
|
||
Barnes LL,
|
||
Beach TG,
|
||
Demirci FY,
|
||
Head E,
|
||
Hulette CM,
|
||
Jicha GA,
|
||
Kauwe JSK,
|
||
Kaye JA,
|
||
Leverenz JB,
|
||
Levey AI,
|
||
Lieberman AP,
|
||
Pankratz VS,
|
||
Poon WW,
|
||
Quinn JF,
|
||
Saykin AJ,
|
||
Schneider LS,
|
||
Smith AG,
|
||
Sonnen JA,
|
||
Stern RA,
|
||
Van Deerlin VM,
|
||
Van Eldik LJ,
|
||
Harold D,
|
||
Russo G,
|
||
Rubinsztein DC,
|
||
Bayer A,
|
||
Tsolaki M,
|
||
Proitsi P,
|
||
Fox NC,
|
||
Hampel H,
|
||
Owen MJ,
|
||
Mead S,
|
||
Passmore P,
|
||
Morgan K,
|
||
Nöthen MM,
|
||
Rossor M,
|
||
Lupton MK,
|
||
Hoffmann P,
|
||
Kornhuber J,
|
||
Lawlor B,
|
||
McQuillin A,
|
||
Al-Chalabi A,
|
||
Bis JC,
|
||
Ruiz A,
|
||
Boada M,
|
||
Seshadri S,
|
||
Beiser A,
|
||
Rice K,
|
||
van der Lee SJ,
|
||
De Jager PL,
|
||
Geschwind DH,
|
||
Riemenschneider M,
|
||
Riedel-Heller S,
|
||
Rotter JI,
|
||
Ransmayr G,
|
||
Hyman BT,
|
||
Cruchaga C,
|
||
Alegret M,
|
||
Winsvold B,
|
||
Palta P,
|
||
Farh KH,
|
||
Cuenca-Leon E,
|
||
Furlotte N,
|
||
Kurth T,
|
||
Ligthart L,
|
||
Terwindt GM,
|
||
Freilinger T,
|
||
Ran C,
|
||
Gordon SD,
|
||
Borck G,
|
||
Adams HHH,
|
||
Lehtimäki T,
|
||
Wedenoja J,
|
||
Buring JE,
|
||
Schürks M,
|
||
Hrafnsdottir M,
|
||
Hottenga JJ,
|
||
Penninx B,
|
||
Artto V,
|
||
Kaunisto M,
|
||
Vepsäläinen S,
|
||
Martin NG,
|
||
Montgomery GW,
|
||
Kurki MI,
|
||
Hämäläinen E,
|
||
Huang H,
|
||
Huang J,
|
||
Sandor C,
|
||
Webber C,
|
||
Muller-Myhsok B,
|
||
Schreiber S,
|
||
Salomaa V,
|
||
Loehrer E,
|
||
Göbel H,
|
||
Macaya A,
|
||
Pozo-Rosich P,
|
||
Hansen T,
|
||
Werge T,
|
||
Kaprio J,
|
||
Metspalu A,
|
||
Kubisch C,
|
||
Ferrari MD,
|
||
Belin AC,
|
||
van den Maagdenberg AMJM,
|
||
Zwart JA,
|
||
Boomsma D,
|
||
Eriksson N,
|
||
Olesen J,
|
||
Chasman DI,
|
||
Nyholt DR,
|
||
Avbersek A,
|
||
Baum L,
|
||
Berkovic S,
|
||
Bradfield J,
|
||
Buono RJ,
|
||
Catarino CB,
|
||
Cossette P,
|
||
De Jonghe P,
|
||
Depondt C,
|
||
Dlugos D,
|
||
Ferraro TN,
|
||
French J,
|
||
Hjalgrim H,
|
||
Jamnadas-Khoda J,
|
||
Kälviäinen R,
|
||
Kunz WS,
|
||
Lerche H,
|
||
Leu C,
|
||
Lindhout D,
|
||
Lo W,
|
||
Lowenstein D,
|
||
McCormack M,
|
||
Møller RS,
|
||
Molloy A,
|
||
Ng PW,
|
||
Oliver K,
|
||
Privitera M,
|
||
Radtke R,
|
||
Ruppert AK,
|
||
Sander T,
|
||
Schachter S,
|
||
Schankin C,
|
||
Scheffer I,
|
||
Schoch S,
|
||
Sisodiya SM,
|
||
Smith P,
|
||
Sperling M,
|
||
Striano P,
|
||
Surges R,
|
||
Thomas GN,
|
||
Visscher F,
|
||
Whelan CD,
|
||
Zara F,
|
||
Heinzen EL,
|
||
Marson A,
|
||
Becker F,
|
||
Stroink H,
|
||
Zimprich F,
|
||
Gasser T,
|
||
Gibbs R,
|
||
Heutink P,
|
||
Martinez M,
|
||
Morris HR,
|
||
Sharma M,
|
||
Ryten M,
|
||
Mok KY,
|
||
Pulit S,
|
||
Bevan S,
|
||
Holliday E,
|
||
Attia J,
|
||
Battey T,
|
||
Boncoraglio G,
|
||
Thijs V,
|
||
Chen WM,
|
||
Mitchell B,
|
||
Rothwell P,
|
||
Sharma P,
|
||
Sudlow C,
|
||
Vicente A,
|
||
Markus H,
|
||
Kourkoulis C,
|
||
Pera J,
|
||
Raffeld M,
|
||
Silliman S,
|
||
Boraska Perica V,
|
||
Thornton LM,
|
||
Huckins LM,
|
||
William Rayner N,
|
||
Lewis CM,
|
||
Gratacos M,
|
||
Rybakowski F,
|
||
Keski-Rahkonen A,
|
||
Raevuori A,
|
||
Hudson JI,
|
||
Reichborn-Kjennerud T,
|
||
Monteleone P,
|
||
Karwautz A,
|
||
Mannik K,
|
||
Baker JH,
|
||
O'Toole JK,
|
||
Trace SE,
|
||
Davis OSP,
|
||
Helder SG,
|
||
Ehrlich S,
|
||
Herpertz-Dahlmann B,
|
||
Danner UN,
|
||
van Elburg AA,
|
||
Clementi M,
|
||
Forzan M,
|
||
Docampo E,
|
||
Lissowska J,
|
||
Hauser J,
|
||
Tortorella A,
|
||
Maj M,
|
||
Gonidakis F,
|
||
Tziouvas K,
|
||
Papezova H,
|
||
Yilmaz Z,
|
||
Wagner G,
|
||
Cohen-Woods S,
|
||
Herms S,
|
||
Julià A,
|
||
Rabionet R,
|
||
Dick DM,
|
||
Ripatti S,
|
||
Andreassen OA,
|
||
Espeseth T,
|
||
Lundervold AJ,
|
||
Steen VM,
|
||
Pinto D,
|
||
Scherer SW,
|
||
Aschauer H,
|
||
Schosser A,
|
||
Alfredsson L,
|
||
Padyukov L,
|
||
Halmi KA,
|
||
Mitchell J,
|
||
Strober M,
|
||
Bergen AW,
|
||
Kaye W,
|
||
Szatkiewicz JP,
|
||
Cormand B,
|
||
Ramos-Quiroga JA,
|
||
Sánchez-Mora C,
|
||
Ribasés M,
|
||
Casas M,
|
||
Hervas A,
|
||
Arranz MJ,
|
||
Haavik J,
|
||
Zayats T,
|
||
Johansson S,
|
||
Williams N,
|
||
Dempfle A,
|
||
Rothenberger A,
|
||
Kuntsi J,
|
||
Oades RD,
|
||
Banaschewski T,
|
||
Franke B,
|
||
Buitelaar JK,
|
||
Arias Vasquez A,
|
||
Doyle AE,
|
||
Reif A,
|
||
Lesch KP,
|
||
Freitag C,
|
||
Rivero O,
|
||
Palmason H,
|
||
Romanos M,
|
||
Langley K,
|
||
Rietschel M,
|
||
Witt SH,
|
||
Dalsgaard S,
|
||
Børglum AD,
|
||
Waldman I,
|
||
Wilmot B,
|
||
Molly N,
|
||
Bau CHD,
|
||
Crosbie J,
|
||
Schachar R,
|
||
Loo SK,
|
||
McGough JJ,
|
||
Grevet EH,
|
||
Medland SE,
|
||
Robinson E,
|
||
Weiss LA,
|
||
Bacchelli E,
|
||
Bailey A,
|
||
Bal V,
|
||
Battaglia A,
|
||
Betancur C,
|
||
Bolton P,
|
||
Cantor R,
|
||
Celestino-Soper P,
|
||
Dawson G,
|
||
De Rubeis S,
|
||
Duque F,
|
||
Green A,
|
||
Klauck SM,
|
||
Leboyer M,
|
||
Levitt P,
|
||
Maestrini E,
|
||
Mane S,
|
||
De-Luca DM,
|
||
Parr J,
|
||
Regan R,
|
||
Reichenberg A,
|
||
Sandin S,
|
||
Vorstman J,
|
||
Wassink T,
|
||
Wijsman E,
|
||
Cook E,
|
||
Santangelo S,
|
||
Delorme R,
|
||
Rogé B,
|
||
Magalhaes T,
|
||
Arking D,
|
||
Schulze TG,
|
||
Thompson RC,
|
||
Strohmaier J,
|
||
Matthews K,
|
||
Melle I,
|
||
Morris D,
|
||
Blackwood D,
|
||
McIntosh A,
|
||
Bergen SE,
|
||
Schalling M,
|
||
Jamain S,
|
||
Maaser A,
|
||
Fischer SB,
|
||
Reinbold CS,
|
||
Fullerton JM,
|
||
Guzman-Parra J,
|
||
Mayoral F,
|
||
Schofield PR,
|
||
Cichon S,
|
||
Mühleisen TW,
|
||
Degenhardt F,
|
||
Schumacher J,
|
||
Bauer M,
|
||
Mitchell PB,
|
||
Gershon ES,
|
||
Rice J,
|
||
Potash JB,
|
||
Zandi PP,
|
||
Craddock N,
|
||
Ferrier IN,
|
||
Alda M,
|
||
Rouleau GA,
|
||
Turecki G,
|
||
Ophoff R,
|
||
Pato C,
|
||
Anjorin A,
|
||
Stahl E,
|
||
Leber M,
|
||
Czerski PM,
|
||
Cruceanu C,
|
||
Jones IR,
|
||
Posthuma D,
|
||
Andlauer TFM,
|
||
Forstner AJ,
|
||
Streit F,
|
||
Baune BT,
|
||
Air T,
|
||
Sinnamon G,
|
||
Wray NR,
|
||
MacIntyre DJ,
|
||
Porteous D,
|
||
Homuth G,
|
||
Rivera M,
|
||
Grove J,
|
||
Middeldorp CM,
|
||
Hickie I,
|
||
Pergadia M,
|
||
Mehta D,
|
||
Smit JH,
|
||
Jansen R,
|
||
de Geus E,
|
||
Dunn E,
|
||
Li QS,
|
||
Nauck M,
|
||
Schoevers RA,
|
||
Beekman AT,
|
||
Knowles JA,
|
||
Viktorin A,
|
||
Arnold P,
|
||
Barr CL,
|
||
Bedoya-Berrio G,
|
||
Bienvenu OJ,
|
||
Brentani H,
|
||
Burton C,
|
||
Camarena B,
|
||
Cappi C,
|
||
Cath D,
|
||
Cavallini M,
|
||
Cusi D,
|
||
Darrow S,
|
||
Denys D,
|
||
Derks EM,
|
||
Dietrich A,
|
||
Fernandez T,
|
||
Figee M,
|
||
Freimer N,
|
||
Gerber G,
|
||
Grados M,
|
||
Greenberg E,
|
||
Hanna GL,
|
||
Hartmann A,
|
||
Hirschtritt ME,
|
||
Hoekstra PJ,
|
||
Huang A,
|
||
Huyser C,
|
||
Illmann C,
|
||
Jenike M,
|
||
Kuperman S,
|
||
Leventhal B,
|
||
Lochner C,
|
||
Lyon GJ,
|
||
Macciardi F,
|
||
Madruga-Garrido M,
|
||
Malaty IA,
|
||
Maras A,
|
||
McGrath L,
|
||
Miguel EC,
|
||
Mir P,
|
||
Nestadt G,
|
||
Nicolini H,
|
||
Okun MS,
|
||
Pakstis A,
|
||
Paschou P,
|
||
Piacentini J,
|
||
Pittenger C,
|
||
Plessen K,
|
||
Ramensky V,
|
||
Ramos EM,
|
||
Reus V,
|
||
Richter MA,
|
||
Riddle MA,
|
||
Robertson MM,
|
||
Roessner V,
|
||
Rosário M,
|
||
Samuels JF,
|
||
Sandor P,
|
||
Stein DJ,
|
||
Tsetsos F,
|
||
Van Nieuwerburgh F,
|
||
Weatherall S,
|
||
Wendland JR,
|
||
Wolanczyk T,
|
||
Worbe Y,
|
||
Zai G,
|
||
Goes FS,
|
||
McLaughlin N,
|
||
Nestadt PS,
|
||
Grabe HJ,
|
||
Depienne C,
|
||
Konkashbaev A,
|
||
Lanzagorta N,
|
||
Valencia-Duarte A,
|
||
Bramon E,
|
||
Buccola N,
|
||
Cahn W,
|
||
Cairns M,
|
||
Chong SA,
|
||
Cohen D,
|
||
Crespo-Facorro B,
|
||
Crowley J,
|
||
Davidson M,
|
||
DeLisi L,
|
||
Dinan T,
|
||
Donohoe G,
|
||
Drapeau E,
|
||
Duan J,
|
||
Haan L,
|
||
Hougaard D,
|
||
Karachanak-Yankova S,
|
||
Khrunin A,
|
||
Klovins J,
|
||
Kučinskas V,
|
||
Lee Chee Keong J,
|
||
Limborska S,
|
||
Loughland C,
|
||
Lönnqvist J,
|
||
Maher B,
|
||
Mattheisen M,
|
||
McDonald C,
|
||
Murphy KC,
|
||
Nenadic I,
|
||
van Os J,
|
||
Pantelis C,
|
||
Pato M,
|
||
Petryshen T,
|
||
Quested D,
|
||
Roussos P,
|
||
Sanders AR,
|
||
Schall U,
|
||
Schwab SG,
|
||
Sim K,
|
||
So HC,
|
||
Stögmann E,
|
||
Subramaniam M,
|
||
Toncheva D,
|
||
Waddington J,
|
||
Walters J,
|
||
Weiser M,
|
||
Cheng W,
|
||
Cloninger R,
|
||
Curtis D,
|
||
Gejman PV,
|
||
Henskens F,
|
||
Mattingsdal M,
|
||
Oh SY,
|
||
Scott R,
|
||
Webb B,
|
||
Breen G,
|
||
Churchhouse C,
|
||
Bulik CM,
|
||
Daly M,
|
||
Dichgans M,
|
||
Faraone SV,
|
||
Guerreiro R,
|
||
Holmans P,
|
||
Kendler KS,
|
||
Koeleman B,
|
||
Mathews CA,
|
||
Price A,
|
||
Scharf J,
|
||
Sklar P,
|
||
Williams J,
|
||
Wood NW,
|
||
Cotsapas C,
|
||
Palotie A,
|
||
Smoller JW,
|
||
Sullivan P,
|
||
Rosand J,
|
||
Corvin A,
|
||
Neale BM,
|
||
Schott JM,
|
||
Anney R,
|
||
Elia J,
|
||
Grigoroiu-Serbanescu M,
|
||
Edenberg HJ,
|
||
Murray R</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2018 Jun 22;360(6395)
|
||
doi: 10.1126/science.aap8757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29930110" target="_blank">29930110</a><a href="/pmc/articles/PMC6097237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
|
||
Pagani G,
|
||
Familiari A,
|
||
Khalil A,
|
||
Sagies TL,
|
||
Malinger G,
|
||
Leibovitz Z,
|
||
Garel C,
|
||
Moutard ML,
|
||
Pilu G,
|
||
Bhide A,
|
||
Acharya G,
|
||
Leombroni M,
|
||
Manzoli L,
|
||
Papageorghiou A,
|
||
Prefumo F</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Sep;138(3)
|
||
doi: 10.1542/peds.2016-0445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2017%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 (357)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34893972">Genetic testing for the epilepsies: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheidley BR,
|
||
Malinowski J,
|
||
Bergner AL,
|
||
Bier L,
|
||
Gloss DS,
|
||
Mu W,
|
||
Mulhern MM,
|
||
Partack EJ,
|
||
Poduri A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Feb;63(2):375-387.
|
||
Epub 2021 Dec 10
|
||
doi: 10.1111/epi.17141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34893972" target="_blank">34893972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Balestrini S,
|
||
Wirrell EC,
|
||
Walker MC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Oct 26;97(17):817-831.
|
||
Epub 2021 Sep 7
|
||
doi: 10.1212/WNL.0000000000012744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31161980">Cannabidiol Adverse Effects and Toxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huestis MA,
|
||
Solimini R,
|
||
Pichini S,
|
||
Pacifici R,
|
||
Carlier J,
|
||
Busardò FP</span><br />
|
||
<span class="medgenPMjournal">Curr Neuropharmacol</span>
|
||
2019;17(10):974-989.
|
||
doi: 10.2174/1570159X17666190603171901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31161980" target="_blank">31161980</a><a href="/pmc/articles/PMC7052834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29768152">Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devinsky O,
|
||
Patel AD,
|
||
Cross JH,
|
||
Villanueva V,
|
||
Wirrell EC,
|
||
Privitera M,
|
||
Greenwood SM,
|
||
Roberts C,
|
||
Checketts D,
|
||
VanLandingham KE,
|
||
Zuberi SM;
|
||
GWPCARE3 Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2018 May 17;378(20):1888-1897.
|
||
doi: 10.1056/NEJMoa1714631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29768152" target="_blank">29768152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29395273">Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Marsh ED,
|
||
French JA,
|
||
Mazurkiewicz-Beldzinska M,
|
||
Benbadis SR,
|
||
Joshi C,
|
||
Lyons PD,
|
||
Taylor A,
|
||
Roberts C,
|
||
Sommerville K;
|
||
GWPCARE4 Study Group</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2018 Mar 17;391(10125):1085-1096.
|
||
Epub 2018 Jan 26
|
||
doi: 10.1016/S0140-6736(18)30136-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29395273" target="_blank">29395273</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2017%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 (174)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
|
||
Benítez A,
|
||
Roth J,
|
||
Andrews JS,
|
||
Shah D,
|
||
Butcher E,
|
||
Jones A,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 May;65(5):1240-1263.
|
||
Epub 2024 Jan 22
|
||
doi: 10.1111/epi.17866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34893972">Genetic testing for the epilepsies: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheidley BR,
|
||
Malinowski J,
|
||
Bergner AL,
|
||
Bier L,
|
||
Gloss DS,
|
||
Mu W,
|
||
Mulhern MM,
|
||
Partack EJ,
|
||
Poduri A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Feb;63(2):375-387.
|
||
Epub 2021 Dec 10
|
||
doi: 10.1111/epi.17141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34893972" target="_blank">34893972</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/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Balestrini S,
|
||
Wirrell EC,
|
||
Walker MC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Oct 26;97(17):817-831.
|
||
Epub 2021 Sep 7
|
||
doi: 10.1212/WNL.0000000000012744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30544257">GRIN2A-related disorders: genotype and functional consequence predict phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strehlow V,
|
||
Heyne HO,
|
||
Vlaskamp DRM,
|
||
Marwick KFM,
|
||
Rudolf G,
|
||
de Bellescize J,
|
||
Biskup S,
|
||
Brilstra EH,
|
||
Brouwer OF,
|
||
Callenbach PMC,
|
||
Hentschel J,
|
||
Hirsch E,
|
||
Kind PC,
|
||
Mignot C,
|
||
Platzer K,
|
||
Rump P,
|
||
Skehel PA,
|
||
Wyllie DJA,
|
||
Hardingham GE,
|
||
van Ravenswaaij-Arts CMA,
|
||
Lesca G,
|
||
Lemke JR;
|
||
GRIN2A study group</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2019 Jan 1;142(1):80-92.
|
||
doi: 10.1093/brain/awy304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30544257" target="_blank">30544257</a><a href="/pmc/articles/PMC6308310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2017%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 (232)</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,
|
||
Lagae L,
|
||
Wilmshurst JM,
|
||
Brunklaus A,
|
||
Striano P,
|
||
Rosenow F,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1256-1270.
|
||
Epub 2023 Oct 11
|
||
doi: 10.1002/epi4.12832.
|
||
<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/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/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Balestrini S,
|
||
Wirrell EC,
|
||
Walker MC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Oct 26;97(17):817-831.
|
||
Epub 2021 Sep 7
|
||
doi: 10.1212/WNL.0000000000012744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34114611">KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonardi CM,
|
||
Heyne HO,
|
||
Fiannacca M,
|
||
Fitzgerald MP,
|
||
Gardella E,
|
||
Gunning B,
|
||
Olofsson K,
|
||
Lesca G,
|
||
Verbeek N,
|
||
Stamberger H,
|
||
Striano P,
|
||
Zara F,
|
||
Mancardi MM,
|
||
Nava C,
|
||
Syrbe S,
|
||
Buono S,
|
||
Baulac S,
|
||
Coppola A,
|
||
Weckhuysen S,
|
||
Schoonjans AS,
|
||
Ceulemans B,
|
||
Sarret C,
|
||
Baumgartner T,
|
||
Muhle H,
|
||
Portes VD,
|
||
Toulouse J,
|
||
Nougues MC,
|
||
Rossi M,
|
||
Demarquay G,
|
||
Ville D,
|
||
Hirsch E,
|
||
Maurey H,
|
||
Willems M,
|
||
de Bellescize J,
|
||
Altuzarra CD,
|
||
Villeneuve N,
|
||
Bartolomei F,
|
||
Picard F,
|
||
Hornemann F,
|
||
Koolen DA,
|
||
Kroes HY,
|
||
Reale C,
|
||
Fenger CD,
|
||
Tan WH,
|
||
Dibbens L,
|
||
Bearden DR,
|
||
Møller RS,
|
||
Rubboli G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2021 Dec 31;144(12):3635-3650.
|
||
doi: 10.1093/brain/awab219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34114611" target="_blank">34114611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30544257">GRIN2A-related disorders: genotype and functional consequence predict phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strehlow V,
|
||
Heyne HO,
|
||
Vlaskamp DRM,
|
||
Marwick KFM,
|
||
Rudolf G,
|
||
de Bellescize J,
|
||
Biskup S,
|
||
Brilstra EH,
|
||
Brouwer OF,
|
||
Callenbach PMC,
|
||
Hentschel J,
|
||
Hirsch E,
|
||
Kind PC,
|
||
Mignot C,
|
||
Platzer K,
|
||
Rump P,
|
||
Skehel PA,
|
||
Wyllie DJA,
|
||
Hardingham GE,
|
||
van Ravenswaaij-Arts CMA,
|
||
Lesca G,
|
||
Lemke JR;
|
||
GRIN2A study group</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2019 Jan 1;142(1):80-92.
|
||
doi: 10.1093/brain/awy304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30544257" target="_blank">30544257</a><a href="/pmc/articles/PMC6308310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2017%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 (279)</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/39360600">Efficacy and safety of stiripentol in the prevention and cessation of status epilepticus: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Auvin S,
|
||
Strzelczyk A,
|
||
Brigo F,
|
||
Villanueva V,
|
||
Trinka E</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Dec;9(6):2017-2036.
|
||
Epub 2024 Oct 3
|
||
doi: 10.1002/epi4.13036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39360600" target="_blank">39360600</a><a href="/pmc/articles/PMC11633682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
|
||
Benítez A,
|
||
Roth J,
|
||
Andrews JS,
|
||
Shah D,
|
||
Butcher E,
|
||
Jones A,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 May;65(5):1240-1263.
|
||
Epub 2024 Jan 22
|
||
doi: 10.1111/epi.17866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34893972">Genetic testing for the epilepsies: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheidley BR,
|
||
Malinowski J,
|
||
Bergner AL,
|
||
Bier L,
|
||
Gloss DS,
|
||
Mu W,
|
||
Mulhern MM,
|
||
Partack EJ,
|
||
Poduri A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Feb;63(2):375-387.
|
||
Epub 2021 Dec 10
|
||
doi: 10.1111/epi.17141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34893972" target="_blank">34893972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33461030">Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharawat IK,
|
||
Panda PK,
|
||
Kasinathan A,
|
||
Panda P,
|
||
Dawman L,
|
||
Joshi K</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2021 Feb;85:119-126.
|
||
Epub 2021 Jan 11
|
||
doi: 10.1016/j.seizure.2020.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33461030" target="_blank">33461030</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%2017%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 (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3809606%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809606%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809606%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809606%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=615473" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%2017" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<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%2017%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%2017%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<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=139311" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2775[geneid]" target="_blank">View GNAO1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615473" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_17" 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,%2017" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13378/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/37956232" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy,%2017" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy,%2017%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>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=815936" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=815936" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3809606[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3809606[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=815936" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=815936" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=815936" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=815936" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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