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<meta name="keywords" content="C5882674, atp6v0c, disease or syndrome, epeo3, epilepsy, early-onset, 3, with or without developmental delay, 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="Early-onset epilepsy-3 with or without developmental delay (EPEO3) is an autosomal dominant neurologic disorder characterized by the onset of various types of seizures in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. The severity and disease course is highly variable: some affected individuals have global developmental delay or regression with impaired intellectual development, poor or absent speech, and motor delay, whereas others have normal psychomotor development. More severely affected individuals often show additional features, including hypotonia, gait ataxia, nonspecific dysmorphic features, behavioral abnormalities, and variable anomalies on brain imaging (Mattison et al., 2023, Zhao et al., 2023). For a discussion of genetic heterogeneity of EPEO, see 617290." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1847911
|
||
ConceptID=C5882674
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epilepsy, early-onset, 3, with or without developmental delay<span class="h1sub">(EPEO3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847911</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:">C5882674</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>EPEO3</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="ATP6V0C - ID: 527 - NCBI Gene" href="/gene/527" class="medgenPMinfo">ATP6V0C</a> (16p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0958196" target="_blank">MONDO:0958196</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620465" target="_blank">620465</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_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">Early-onset epilepsy-3 with or without developmental delay (EPEO3) is an autosomal dominant neurologic disorder characterized by the onset of various types of seizures in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. The severity and disease course is highly variable: some affected individuals have global developmental delay or regression with impaired intellectual development, poor or absent speech, and motor delay, whereas others have normal psychomotor development. More severely affected individuals often show additional features, including hypotonia, gait ataxia, nonspecific dysmorphic features, behavioral abnormalities, and variable anomalies on brain imaging (Mattison et al., 2023, Zhao et al., 2023). For a discussion of genetic heterogeneity of EPEO, see 617290. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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_3232"><div><strong>Febrile seizure (within the age range of 3 months to 6 years)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3232</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.">C0009952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3232">Feature record</a> | <a href="/medgen?term=%22Febrile%20seizure%20(within%20the%20age%20range%20of%203%20months%20to%206%20years)%22%5BClinical%20Features%5D%20OR%203232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7680"><div><strong>Intellectual disability, moderate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7680</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.">C0026351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7680">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20moderate%22%5BClinical%20Features%5D%20OR%207680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</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 is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%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_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</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.">C0751495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%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_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_892508"><div><strong>Intellectual disability, profound</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892508</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3161330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Profound mental retardation is defined as an intelligence quotient (IQ) below 20.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892508">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20profound%22%5BClinical%20Features%5D%20OR%20892508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_482664"><div><strong>Multifocal seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482664</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.">C3281034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482664">Feature record</a> | <a href="/medgen?term=%22Multifocal%20seizures%22%5BClinical%20Features%5D%20OR%20482664%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_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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="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_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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic 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_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</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_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-onset seizure</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_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, moderate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, profound</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_482664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multifocal seizures</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_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/35138954">Clinical Practice Guideline: Tympanostomy Tubes in Children (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld RM,
|
||
Tunkel DE,
|
||
Schwartz SR,
|
||
Anne S,
|
||
Bishop CE,
|
||
Chelius DC,
|
||
Hackell J,
|
||
Hunter LL,
|
||
Keppel KL,
|
||
Kim AH,
|
||
Kim TW,
|
||
Levine JM,
|
||
Maksimoski MT,
|
||
Moore DJ,
|
||
Preciado DA,
|
||
Raol NP,
|
||
Vaughan WK,
|
||
Walker EA,
|
||
Monjur TM</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2022 Feb;166(1_suppl):S1-S55.
|
||
doi: 10.1177/01945998211065662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35138954" target="_blank">35138954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33549739">The World Federation of ADHD International Consensus Statement: 208 Evidence-based conclusions about the disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faraone SV,
|
||
Banaschewski T,
|
||
Coghill D,
|
||
Zheng Y,
|
||
Biederman J,
|
||
Bellgrove MA,
|
||
Newcorn JH,
|
||
Gignac M,
|
||
Al Saud NM,
|
||
Manor I,
|
||
Rohde LA,
|
||
Yang L,
|
||
Cortese S,
|
||
Almagor D,
|
||
Stein MA,
|
||
Albatti TH,
|
||
Aljoudi HF,
|
||
Alqahtani MMJ,
|
||
Asherson P,
|
||
Atwoli L,
|
||
Bölte S,
|
||
Buitelaar JK,
|
||
Crunelle CL,
|
||
Daley D,
|
||
Dalsgaard S,
|
||
Döpfner M,
|
||
Espinet S,
|
||
Fitzgerald M,
|
||
Franke B,
|
||
Gerlach M,
|
||
Haavik J,
|
||
Hartman CA,
|
||
Hartung CM,
|
||
Hinshaw SP,
|
||
Hoekstra PJ,
|
||
Hollis C,
|
||
Kollins SH,
|
||
Sandra Kooij JJ,
|
||
Kuntsi J,
|
||
Larsson H,
|
||
Li T,
|
||
Liu J,
|
||
Merzon E,
|
||
Mattingly G,
|
||
Mattos P,
|
||
McCarthy S,
|
||
Mikami AY,
|
||
Molina BSG,
|
||
Nigg JT,
|
||
Purper-Ouakil D,
|
||
Omigbodun OO,
|
||
Polanczyk GV,
|
||
Pollak Y,
|
||
Poulton AS,
|
||
Rajkumar RP,
|
||
Reding A,
|
||
Reif A,
|
||
Rubia K,
|
||
Rucklidge J,
|
||
Romanos M,
|
||
Ramos-Quiroga JA,
|
||
Schellekens A,
|
||
Scheres A,
|
||
Schoeman R,
|
||
Schweitzer JB,
|
||
Shah H,
|
||
Solanto MV,
|
||
Sonuga-Barke E,
|
||
Soutullo C,
|
||
Steinhausen HC,
|
||
Swanson JM,
|
||
Thapar A,
|
||
Tripp G,
|
||
van de Glind G,
|
||
van den Brink W,
|
||
Van der Oord S,
|
||
Venter A,
|
||
Vitiello B,
|
||
Walitza S,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2021 Sep;128:789-818.
|
||
Epub 2021 Feb 4
|
||
doi: 10.1016/j.neubiorev.2021.01.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33549739" target="_blank">33549739</a><a href="/pmc/articles/PMC8328933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20466091">Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DT,
|
||
Adam MP,
|
||
Aradhya S,
|
||
Biesecker LG,
|
||
Brothman AR,
|
||
Carter NP,
|
||
Church DM,
|
||
Crolla JA,
|
||
Eichler EE,
|
||
Epstein CJ,
|
||
Faucett WA,
|
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Feuk L,
|
||
Friedman JM,
|
||
Hamosh A,
|
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Jackson L,
|
||
Kaminsky EB,
|
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Kok K,
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Krantz ID,
|
||
Kuhn RM,
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Lee C,
|
||
Ostell JM,
|
||
Rosenberg C,
|
||
Scherer SW,
|
||
Spinner NB,
|
||
Stavropoulos DJ,
|
||
Tepperberg JH,
|
||
Thorland EC,
|
||
Vermeesch JR,
|
||
Waggoner DJ,
|
||
Watson MS,
|
||
Martin CL,
|
||
Ledbetter DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 May 14;86(5):749-64.
|
||
doi: 10.1016/j.ajhg.2010.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20466091" target="_blank">20466091</a><a href="/pmc/articles/PMC2869000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epilepsy%2C%20early-onset%2C%203%2C%20with%20or%20without%20developmental%20delay)%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 (1090)</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/38301455">The crosstalk between epilepsy and dementia: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
|
||
Yang W,
|
||
Yang F,
|
||
Yu Y,
|
||
Xu T,
|
||
Wang D,
|
||
Zhao Q,
|
||
Wu Q,
|
||
Han Y</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2024 Mar;152:109640.
|
||
Epub 2024 Jan 31
|
||
doi: 10.1016/j.yebeh.2024.109640.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38301455" target="_blank">38301455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34864663">Epilepsy in Early Onset Alzheimer's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haoudy S,
|
||
Jonveaux T,
|
||
Puisieux S,
|
||
Epstein J,
|
||
Hopes L,
|
||
Maillard L,
|
||
Aron O,
|
||
Tyvaert L</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2022;85(2):615-626.
|
||
doi: 10.3233/JAD-210681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34864663" target="_blank">34864663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26993565">Severe neonatal seizures: From molecular diagnosis to precision therapy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milh M,
|
||
Cacciagli P,
|
||
Ravix C,
|
||
Badens C,
|
||
Lépine A,
|
||
Villeneuve N,
|
||
Villard L</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2016 Mar;172(3):171-3.
|
||
Epub 2016 Mar 15
|
||
doi: 10.1016/j.neurol.2016.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26993565" target="_blank">26993565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26132100">Delays in Motor Development in Children with Down Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malak R,
|
||
Kostiukow A,
|
||
Krawczyk-Wasielewska A,
|
||
Mojs E,
|
||
Samborski W</span><br />
|
||
<span class="medgenPMjournal">Med Sci Monit</span>
|
||
2015 Jul 1;21:1904-10.
|
||
doi: 10.12659/MSM.893377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26132100" target="_blank">26132100</a><a href="/pmc/articles/PMC4500597" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11389801">Post-stroke epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olsen TS</span><br />
|
||
<span class="medgenPMjournal">Curr Atheroscler Rep</span>
|
||
2001 Jul;3(4):340-4.
|
||
doi: 10.1007/s11883-001-0029-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11389801" target="_blank">11389801</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20early-onset%2C%203%2C%20with%20or%20without%20developmental%20delay%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 (13804)</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/33200402">Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanski A,
|
||
Calle-López Y,
|
||
Leu C,
|
||
Pérez-Palma E,
|
||
Pestana-Knight E,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):143-151.
|
||
Epub 2020 Nov 17
|
||
doi: 10.1111/epi.16755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200402" target="_blank">33200402</a><a href="/pmc/articles/PMC7839709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30997518">Developmental delay: identification and management at primary care level.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choo YY,
|
||
Agarwal P,
|
||
How CH,
|
||
Yeleswarapu SP</span><br />
|
||
<span class="medgenPMjournal">Singapore Med J</span>
|
||
2019 Mar;60(3):119-123.
|
||
doi: 10.11622/smedj.2019025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30997518" target="_blank">30997518</a><a href="/pmc/articles/PMC6441684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26993565">Severe neonatal seizures: From molecular diagnosis to precision therapy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milh M,
|
||
Cacciagli P,
|
||
Ravix C,
|
||
Badens C,
|
||
Lépine A,
|
||
Villeneuve N,
|
||
Villard L</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2016 Mar;172(3):171-3.
|
||
Epub 2016 Mar 15
|
||
doi: 10.1016/j.neurol.2016.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26993565" target="_blank">26993565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26208514">Management of developmental speech and language disorders: Part 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Hare A,
|
||
Bremner L</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2016 Mar;101(3):272-7.
|
||
Epub 2015 Jul 24
|
||
doi: 10.1136/archdischild-2014-307394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26208514" target="_blank">26208514</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20early-onset%2C%203%2C%20with%20or%20without%20developmental%20delay%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 (12690)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36173945">Iron deficiency and common neurodevelopmental disorders-A scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McWilliams S,
|
||
Singh I,
|
||
Leung W,
|
||
Stockler S,
|
||
Ipsiroglu OS</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(9):e0273819.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1371/journal.pone.0273819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36173945" target="_blank">36173945</a><a href="/pmc/articles/PMC9522276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200402">Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanski A,
|
||
Calle-López Y,
|
||
Leu C,
|
||
Pérez-Palma E,
|
||
Pestana-Knight E,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):143-151.
|
||
Epub 2020 Nov 17
|
||
doi: 10.1111/epi.16755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200402" target="_blank">33200402</a><a href="/pmc/articles/PMC7839709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33368142">Antenatal corticosteroids for accelerating fetal lung maturation for women at risk of preterm birth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGoldrick E,
|
||
Stewart F,
|
||
Parker R,
|
||
Dalziel SR</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Dec 25;12(12):CD004454.
|
||
doi: 10.1002/14651858.CD004454.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33368142" target="_blank">33368142</a><a href="/pmc/articles/PMC8094626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30985406">Hypothyroidism in Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan SA</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
2019 Jun;62(2):308-319.
|
||
doi: 10.1097/GRF.0000000000000432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30985406" target="_blank">30985406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12918003">Speech and language therapy interventions for children with primary speech and language delay or disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Law J,
|
||
Garrett Z,
|
||
Nye C</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2003;2003(3):CD004110.
|
||
doi: 10.1002/14651858.CD004110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12918003" target="_blank">12918003</a><a href="/pmc/articles/PMC8407295" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20early-onset%2C%203%2C%20with%20or%20without%20developmental%20delay%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 (5264)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36868707">High-Risk Infant Follow-Up After NICU Discharge: Current Care Models and Future Considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litt JS,
|
||
Campbell DE</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2023 Mar;50(1):225-238.
|
||
doi: 10.1016/j.clp.2022.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36868707" target="_blank">36868707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34895510">Effects of delayed versus immediate umbilical cord clamping in reducing death or major disability at 2 years corrected age among very preterm infants (APTS): a multicentre, randomised clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robledo KP,
|
||
Tarnow-Mordi WO,
|
||
Rieger I,
|
||
Suresh P,
|
||
Martin A,
|
||
Yeung C,
|
||
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Craiu D,
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<div class="nl"><a target="_blank" href="/pubmed/16670037">Screening for developmental delay: reliable, easy-to-use tools.</a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33985586">Calcium channelopathies and intellectual disability: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kessi M,
|
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Chen B,
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Peng J,
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Yan F,
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Yang L,
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Yin F</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2021 May 13;16(1):219.
|
||
doi: 10.1186/s13023-021-01850-0.
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||
<span class="bold">PMID: </span><a href="/pubmed/33985586" target="_blank">33985586</a><a href="/pmc/articles/PMC8120735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30808424">Congenital myasthenic syndromes.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Feb 26;14(1):57.
|
||
doi: 10.1186/s13023-019-1025-5.
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<span class="bold">PMID: </span><a href="/pubmed/30808424" target="_blank">30808424</a><a href="/pmc/articles/PMC6390566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29164765">Maternal pre-pregnancy obesity and child neurodevelopmental outcomes: a meta-analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez CE,
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Barry C,
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Sabhlok A,
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Russell K,
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Majors A,
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2018 Apr;19(4):464-484.
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Epub 2017 Nov 22
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|
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<div class="nl"><a target="_blank" href="/pubmed/26709689">Toe walking: causes, epidemiology, assessment, and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruzbarsky JJ,
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Scher D,
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2016 Feb;28(1):40-6.
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<span class="bold">PMID: </span><a href="/pubmed/26709689" target="_blank">26709689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25157020">Comprehensive evaluation of the child with intellectual disability or global developmental delays.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moeschler JB,
|
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Shevell M;
|
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Committee on Genetics</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
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2014 Sep;134(3):e903-18.
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20early-onset%2C%203%2C%20with%20or%20without%20developmental%20delay%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 (459)</a></div></div>
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