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<meta name="keywords" content="C5774253, dee108, developmental and epileptic encephalopathy 108, disease or syndrome, mast3, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Developmental and epileptic encephalopathy-108 (DEE108) is characterized by the onset of multiple types of seizures in the first 2 years of life. Affected individuals often have normal early development before the onset of seizures, after which they show developmental regression with loss of skills, particularly language; most are nonverbal or speak only a few words. Other features included mildly delayed walking, unsteady gait, hypotonia, and behavioral abnormalities, such as ADHD or autism (Spinelli et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1824026
|
||
ConceptID=C5774253
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy 108<span class="h1sub">(DEE108)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824026</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:">C5774253</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>DEE108</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="MAST3 - ID: 23031 - NCBI Gene" href="/gene/23031" class="medgenPMinfo">MAST3</a> (19p13.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859314" target="_blank">MONDO:0859314</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620115" target="_blank">620115</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Developmental and epileptic encephalopathy-108 (DEE108) is characterized by the onset of multiple types of seizures in the first 2 years of life. Affected individuals often have normal early development before the onset of seizures, after which they show developmental regression with loss of skills, particularly language; most are nonverbal or speak only a few words. Other features included mildly delayed walking, unsteady gait, hypotonia, and behavioral abnormalities, such as ADHD or autism (Spinelli et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_543022"><div><strong>Focal impaired awareness seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543022</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.">C0270834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543022">Feature record</a> | <a href="/medgen?term=%22Focal%20impaired%20awareness%20seizure%22%5BClinical%20Features%5D%20OR%20543022%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82855"><div><strong>Tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82855</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82855">Feature record</a> | <a href="/medgen?term=%22Tonic%20seizure%22%5BClinical%20Features%5D%20OR%2082855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78735"><div><strong>Atonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78735</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.">C0270846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78735">Feature record</a> | <a href="/medgen?term=%22Atonic%20seizure%22%5BClinical%20Features%5D%20OR%2078735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137148"><div><strong>Convulsive status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137148</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.">C0311335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137148">Feature record</a> | <a href="/medgen?term=%22Convulsive%20status%20epilepticus%22%5BClinical%20Features%5D%20OR%20137148%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_164077"><div><strong>Bilateral tonic-clonic seizure with focal onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164077</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.">C0877017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164077">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%20with%20focal%20onset%22%5BClinical%20Features%5D%20OR%20164077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1716066"><div><strong>Focal motor status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716066</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.">C1396824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716066">Feature record</a> | <a href="/medgen?term=%22Focal%20motor%20status%20epilepticus%22%5BClinical%20Features%5D%20OR%201716066%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868479"><div><strong>Small pituitary gland</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868479</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.">C4022873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased size of the pituitary gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868479">Feature record</a> | <a href="/medgen?term=%22Small%20pituitary%20gland%22%5BClinical%20Features%5D%20OR%20868479%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</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.">C4316903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368929"><div><strong>Bilateral tonic-clonic seizure with generalized onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368929</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.">C4476643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368929">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%20with%20generalized%20onset%22%5BClinical%20Features%5D%20OR%201368929%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div><div class="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_78735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_164077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure with focal onset</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure with generalized onset</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Convulsive status epilepticus</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_543022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal impaired awareness seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1716066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal motor status epilepticus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized non-motor (absence) seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small pituitary gland</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34022752">Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barcia Aguilar C,
|
||
Amengual-Gual M,
|
||
Sánchez Fernández I,
|
||
Abend NS,
|
||
Anderson A,
|
||
Appavu B,
|
||
Arya R,
|
||
Brenton JN,
|
||
Carpenter JL,
|
||
Chapman KE,
|
||
Clark J,
|
||
Farias-Moeller R,
|
||
Gaillard WD,
|
||
Gaínza-Lein M,
|
||
Glauser T,
|
||
Goldstein JL,
|
||
Goodkin HP,
|
||
Guerriero RM,
|
||
Huh L,
|
||
Lai YC,
|
||
McDonough TL,
|
||
Mikati MA,
|
||
Morgan LA,
|
||
Novotny EJ,
|
||
Ostendorf A,
|
||
Payne ET,
|
||
Peariso K,
|
||
Piantino J,
|
||
Riviello J,
|
||
Sannagowdara K,
|
||
Sheehan T,
|
||
Sands TT,
|
||
Tasker RC,
|
||
Tchapyjnikov D,
|
||
Topjian AA,
|
||
Vasquez A,
|
||
Wainwright MS,
|
||
Wilfong AA,
|
||
Williams K,
|
||
Loddenkemper T;
|
||
pSERG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Jul;120:71-79.
|
||
Epub 2021 Mar 26
|
||
doi: 10.1016/j.pediatrneurol.2021.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34022752" target="_blank">34022752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33095372">Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2021 Jan;36(1):29-43.
|
||
Epub 2020 Oct 23
|
||
doi: 10.1007/s11011-020-00635-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33095372" target="_blank">33095372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29025426">The complete European guidelines on phenylketonuria: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wegberg AMJ,
|
||
MacDonald A,
|
||
Ahring K,
|
||
Bélanger-Quintana A,
|
||
Blau N,
|
||
Bosch AM,
|
||
Burlina A,
|
||
Campistol J,
|
||
Feillet F,
|
||
Giżewska M,
|
||
Huijbregts SC,
|
||
Kearney S,
|
||
Leuzzi V,
|
||
Maillot F,
|
||
Muntau AC,
|
||
van Rijn M,
|
||
Trefz F,
|
||
Walter JH,
|
||
van Spronsen FJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Oct 12;12(1):162.
|
||
doi: 10.1186/s13023-017-0685-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29025426" target="_blank">29025426</a><a href="/pmc/articles/PMC5639803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%20108)%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 (5)</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/36990719">Seizure Burden and Neurologic Outcomes After Neonatal Encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alharbi HM,
|
||
Pinchefsky EF,
|
||
Tran MA,
|
||
Salazar Cerda CI,
|
||
Parokaran Varghese J,
|
||
Kamino D,
|
||
Widjaja E,
|
||
Mamak E,
|
||
Ly L,
|
||
Nevalainen P,
|
||
Hahn CD,
|
||
Tam EWY</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 May 9;100(19):e1976-e1984.
|
||
Epub 2023 Mar 29
|
||
doi: 10.1212/WNL.0000000000207202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36990719" target="_blank">36990719</a><a href="/pmc/articles/PMC10186227" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36600485">Outcome at early school age and adolescence after hypothermia-treated hypoxic-ischaemic encephalopathy: an observational, population-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertsson Grossmann K,
|
||
Eriksson Westblad M,
|
||
Blennow M,
|
||
Lindström K</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
|
||
2023 May;108(3):295-301.
|
||
Epub 2022 Dec 9
|
||
doi: 10.1136/archdischild-2022-324418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36600485" target="_blank">36600485</a><a href="/pmc/articles/PMC10176399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31161467">Clinical approach to neurodegenerative disorders in childhood: an updated overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2019 Dec;119(4):511-521.
|
||
Epub 2019 Jun 3
|
||
doi: 10.1007/s13760-019-01160-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31161467" target="_blank">31161467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28942967">De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers CT,
|
||
Stong N,
|
||
Mountier EI,
|
||
Helbig KL,
|
||
Freytag S,
|
||
Sullivan JE,
|
||
Ben Zeev B,
|
||
Nissenkorn A,
|
||
Tzadok M,
|
||
Heimer G,
|
||
Shinde DN,
|
||
Rezazadeh A,
|
||
Regan BM,
|
||
Oliver KL,
|
||
Ernst ME,
|
||
Lippa NC,
|
||
Mulhern MS,
|
||
Ren Z,
|
||
Poduri A,
|
||
Andrade DM,
|
||
Bird LM,
|
||
Bahlo M,
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Lowenstein DH,
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<div class="nl"><a target="_blank" href="/pubmed/27838190">Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Callaghan FJ,
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Edwards SW,
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Hancock E,
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Johnson AL,
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Kennedy CR,
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Lux AL,
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Mackay M,
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Mallick AA,
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Nolan M,
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Pressler R,
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Rating D,
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Schmitt B,
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Tofaris GK,
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Hughes I,
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Mansour S,
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Splitt M,
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Turnpenny PD,
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Demetriou D,
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Koopmann TT,
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Ruivenkamp CAL,
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Agrawal PB,
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Carr L,
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Clowes V,
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Ghali N,
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Radley J,
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Male A,
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Callaghan FJ,
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Rating D,
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<div class="nl"><a target="_blank" href="/pubmed/27838190">Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Callaghan FJ,
|
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Edwards SW,
|
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Alber FD,
|
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Hancock E,
|
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Johnson AL,
|
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Kennedy CR,
|
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Likeman M,
|
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Lux AL,
|
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Mackay M,
|
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Mallick AA,
|
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Newton RW,
|
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Nolan M,
|
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Pressler R,
|
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Rating D,
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Schmitt B,
|
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Verity CM,
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Osborne JP;
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<span class="medgenPMjournal">Lancet Neurol</span>
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2017 Jan;16(1):33-42.
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Epub 2016 Nov 10
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doi: 10.1016/S1474-4422(16)30294-0.
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<span class="bold">PMID: </span><a href="/pubmed/27838190" target="_blank">27838190</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20108%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36192182">The Phenotypic Continuum of ATP1A3-Related Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vezyroglou A,
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Akilapa R,
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Barwick K,
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Koene S,
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Brownstein CA,
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Holder-Espinasse M,
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Fry AE,
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Németh AH,
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Tofaris GK,
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Hay E,
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Hughes I,
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Mansour S,
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Mordekar SR,
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Splitt M,
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Turnpenny PD,
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Demetriou D,
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Koopmann TT,
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Ruivenkamp CAL,
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Agrawal PB,
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Carr L,
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Clowes V,
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Holder SE,
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Radley J,
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Male A,
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Sisodiya SM,
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<span class="medgenPMjournal">Neurology</span>
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2022 Oct 4;99(14):e1511-e1526.
|
||
Epub 2022 Jul 18
|
||
doi: 10.1212/WNL.0000000000200927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36192182" target="_blank">36192182</a><a href="/pmc/articles/PMC9576304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34102099">De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Usmani MA,
|
||
Ahmed ZM,
|
||
Magini P,
|
||
Pienkowski VM,
|
||
Rasmussen KJ,
|
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Hernan R,
|
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Rasheed F,
|
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Hussain M,
|
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Shahzad M,
|
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Lanpher BC,
|
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Niu Z,
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Lim FY,
|
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Pippucci T,
|
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Ploski R,
|
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Kraus V,
|
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Matuszewska K,
|
||
Palombo F,
|
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Kianmahd J;
|
||
UCLA Clinical Genomics Center,
|
||
Martinez-Agosto JA,
|
||
Lee H,
|
||
Colao E,
|
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Motazacker MM,
|
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Brigatti KW,
|
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Puffenberger EG,
|
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Riazuddin SA,
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Gonzaga-Jauregui C,
|
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Chung WK,
|
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Wagner M,
|
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Schultz MJ,
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Seri M,
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Kievit AJA,
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Perrotti N,
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Wassink-Ruiter JSK,
|
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van Bokhoven H,
|
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Riazuddin S,
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Riazuddin S</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Jul 1;108(7):1330-1341.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1016/j.ajhg.2021.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34102099" target="_blank">34102099</a><a href="/pmc/articles/PMC8322935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34022752">Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barcia Aguilar C,
|
||
Amengual-Gual M,
|
||
Sánchez Fernández I,
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Abend NS,
|
||
Anderson A,
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Appavu B,
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Arya R,
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Brenton JN,
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Carpenter JL,
|
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Chapman KE,
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Clark J,
|
||
Farias-Moeller R,
|
||
Gaillard WD,
|
||
Gaínza-Lein M,
|
||
Glauser T,
|
||
Goldstein JL,
|
||
Goodkin HP,
|
||
Guerriero RM,
|
||
Huh L,
|
||
Lai YC,
|
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McDonough TL,
|
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Mikati MA,
|
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Morgan LA,
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Novotny EJ,
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Ostendorf A,
|
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Payne ET,
|
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Peariso K,
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Piantino J,
|
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Riviello J,
|
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Sannagowdara K,
|
||
Sheehan T,
|
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Sands TT,
|
||
Tasker RC,
|
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Tchapyjnikov D,
|
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Topjian AA,
|
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Vasquez A,
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Wainwright MS,
|
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Wilfong AA,
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Williams K,
|
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Loddenkemper T;
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pSERG</span><br />
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<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Jul;120:71-79.
|
||
Epub 2021 Mar 26
|
||
doi: 10.1016/j.pediatrneurol.2021.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34022752" target="_blank">34022752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32334365">Intellectual functioning and behavior in Dravet syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jansson JS,
|
||
Hallböök T,
|
||
Reilly C</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Jul;108:107079.
|
||
Epub 2020 Apr 22
|
||
doi: 10.1016/j.yebeh.2020.107079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32334365" target="_blank">32334365</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20108%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 (28)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38954008">The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M,
|
||
Manti F,
|
||
Ricciardi G,
|
||
Cinnante EMC,
|
||
Cameli N,
|
||
Beatrice A,
|
||
Tolve M,
|
||
Pisani F</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Sep;183(9):3665-3678.
|
||
Epub 2024 Jul 2
|
||
doi: 10.1007/s00431-024-05657-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38954008" target="_blank">38954008</a><a href="/pmc/articles/PMC11322378" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38494502">The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang SC,
|
||
Eichinger CS,
|
||
Field P</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Res</span>
|
||
2024 Mar 18;29(1):181.
|
||
doi: 10.1186/s40001-024-01771-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38494502" target="_blank">38494502</a><a href="/pmc/articles/PMC10946116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33919646">Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spagnoli C,
|
||
Fusco C,
|
||
Percesepe A,
|
||
Leuzzi V,
|
||
Pisani F</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 18;22(8)
|
||
doi: 10.3390/ijms22084202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33919646" target="_blank">33919646</a><a href="/pmc/articles/PMC8072943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32334365">Intellectual functioning and behavior in Dravet syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jansson JS,
|
||
Hallböök T,
|
||
Reilly C</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Jul;108:107079.
|
||
Epub 2020 Apr 22
|
||
doi: 10.1016/j.yebeh.2020.107079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32334365" target="_blank">32334365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25354543">Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bromley R,
|
||
Weston J,
|
||
Adab N,
|
||
Greenhalgh J,
|
||
Sanniti A,
|
||
McKay AJ,
|
||
Tudur Smith C,
|
||
Marson AG</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Oct 30;2014(10):CD010236.
|
||
doi: 10.1002/14651858.CD010236.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25354543" target="_blank">25354543</a><a href="/pmc/articles/PMC7390020" 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%20108%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%20108)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612258" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23031[geneid]" target="_blank">View MAST3 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=620115" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_108" 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%20108" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy%20108" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy%20108%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1824026" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1824026" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1824026" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1824026" ref="log$=recordlinks">OMIM(Genes)</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1824026" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1824026" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<h3>Recent activity</h3>
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<li>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
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||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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||
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