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<meta name="keywords" content="C5774183, atp6v0a1, dee104, developmental and epileptic encephalopathy 104, disease or syndrome, 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-104 (DEE104) is an autosomal dominant disorder characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures (summary by Bott 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=1823956
|
||
ConceptID=C5774183
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy 104<span class="h1sub">(DEE104)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823956</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:">C5774183</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>DEE104</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="ATP6V0A1 - ID: 535 - NCBI Gene" href="/gene/535" class="medgenPMinfo">ATP6V0A1</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0031021" target="_blank">MONDO:0031021</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619970" target="_blank">619970</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-104 (DEE104) is an autosomal dominant disorder characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures (summary by Bott 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>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_324693"><div><strong>Poor suck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324693</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.">C1837142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324693">Feature record</a> | <a href="/medgen?term=%22Poor%20suck%22%5BClinical%20Features%5D%20OR%20324693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88371"><div><strong>Self-injurious behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88371</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.">C0085271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Self-aggression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-injurious%20behavior%22%5BClinical%20Features%5D%20OR%2088371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88447"><div><strong>Agitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88447</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.">C0085631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88447">Feature record</a> | <a href="/medgen?term=%22Agitation%22%5BClinical%20Features%5D%20OR%2088447%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66708"><div><strong>Clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66708</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.">C0234535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66708">Feature record</a> | <a href="/medgen?term=%22Clonic%20seizure%22%5BClinical%20Features%5D%20OR%2066708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%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_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</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.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%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_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_315948"><div><strong>Epileptic spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1527366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315948">Feature record</a> | <a href="/medgen?term=%22Epileptic%20spasm%22%5BClinical%20Features%5D%20OR%20315948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_1718874"><div><strong>Delayed ability to roll over</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718874</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.">C5397980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed achievement of the ability to roll front to back and back to front.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718874">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20roll%20over%22%5BClinical%20Features%5D%20OR%201718874%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor suck</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</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_66708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1718874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to roll over</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</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_315948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-injurious behavior</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/36948217">KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falsaperla R,
|
||
Criscione R,
|
||
Cimino C,
|
||
Pisani F,
|
||
Ruggieri M</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2023 Oct;54(5):297-307.
|
||
Epub 2023 Mar 22
|
||
doi: 10.1055/a-2060-4576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36948217" target="_blank">36948217</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32366910">A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolc KL,
|
||
Sadleir LG,
|
||
Depienne C,
|
||
Marini C,
|
||
Scheffer IE,
|
||
Møller RS,
|
||
Trivisano M,
|
||
Specchio N,
|
||
Pham D,
|
||
Kumar R,
|
||
Roberts R,
|
||
Gecz J</span><br />
|
||
<span class="medgenPMjournal">Transl Psychiatry</span>
|
||
2020 May 4;10(1):127.
|
||
doi: 10.1038/s41398-020-0803-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32366910" target="_blank">32366910</a><a href="/pmc/articles/PMC7198503" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15055719">Current methods in the treatment of posthemorrhagic hydrocephalus in infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horinek D,
|
||
Cihar M,
|
||
Tichy M</span><br />
|
||
<span class="medgenPMjournal">Bratisl Lek Listy</span>
|
||
2003;104(11):347-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15055719" target="_blank">15055719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%20104)%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 (3)</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/38279250">Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavirani B,
|
||
Spagnoli C,
|
||
Caraffi SG,
|
||
Cavalli A,
|
||
Cesaroni CA,
|
||
Cutillo G,
|
||
De Giorgis V,
|
||
Frattini D,
|
||
Marchetti GB,
|
||
Masnada S,
|
||
Peron A,
|
||
Rizzi S,
|
||
Varesio C,
|
||
Spaccini L,
|
||
Vignoli A,
|
||
Canevini MP,
|
||
Veggiotti P,
|
||
Garavelli L,
|
||
Fusco C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 19;25(2)
|
||
doi: 10.3390/ijms25021248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38279250" target="_blank">38279250</a><a href="/pmc/articles/PMC10816990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34732400">Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schon KR,
|
||
Horvath R,
|
||
Wei W,
|
||
Calabrese C,
|
||
Tucci A,
|
||
Ibañez K,
|
||
Ratnaike T,
|
||
Pitceathly RDS,
|
||
Bugiardini E,
|
||
Quinlivan R,
|
||
Hanna MG,
|
||
Clement E,
|
||
Ashton E,
|
||
Sayer JA,
|
||
Brennan P,
|
||
Josifova D,
|
||
Izatt L,
|
||
Fratter C,
|
||
Nesbitt V,
|
||
Barrett T,
|
||
McMullen DJ,
|
||
Smith A,
|
||
Deshpande C,
|
||
Smithson SF,
|
||
Festenstein R,
|
||
Canham N,
|
||
Caulfield M,
|
||
Houlden H,
|
||
Rahman S,
|
||
Chinnery PF;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Nov 3;375:e066288.
|
||
doi: 10.1136/bmj-2021-066288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34732400" target="_blank">34732400</a><a href="/pmc/articles/PMC8565085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31300657">AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salpietro V,
|
||
Dixon CL,
|
||
Guo H,
|
||
Bello OD,
|
||
Vandrovcova J,
|
||
Efthymiou S,
|
||
Maroofian R,
|
||
Heimer G,
|
||
Burglen L,
|
||
Valence S,
|
||
Torti E,
|
||
Hacke M,
|
||
Rankin J,
|
||
Tariq H,
|
||
Colin E,
|
||
Procaccio V,
|
||
Striano P,
|
||
Mankad K,
|
||
Lieb A,
|
||
Chen S,
|
||
Pisani L,
|
||
Bettencourt C,
|
||
Männikkö R,
|
||
Manole A,
|
||
Brusco A,
|
||
Grosso E,
|
||
Ferrero GB,
|
||
Armstrong-Moron J,
|
||
Gueden S,
|
||
Bar-Yosef O,
|
||
Tzadok M,
|
||
Monaghan KG,
|
||
Santiago-Sim T,
|
||
Person RE,
|
||
Cho MT,
|
||
Willaert R,
|
||
Yoo Y,
|
||
Chae JH,
|
||
Quan Y,
|
||
Wu H,
|
||
Wang T,
|
||
Bernier RA,
|
||
Xia K,
|
||
Blesson A,
|
||
Jain M,
|
||
Motazacker MM,
|
||
Jaeger B,
|
||
Schneider AL,
|
||
Boysen K,
|
||
Muir AM,
|
||
Myers CT,
|
||
Gavrilova RH,
|
||
Gunderson L,
|
||
Schultz-Rogers L,
|
||
Klee EW,
|
||
Dyment D,
|
||
Osmond M,
|
||
Parellada M,
|
||
Llorente C,
|
||
Gonzalez-Peñas J,
|
||
Carracedo A,
|
||
Van Haeringen A,
|
||
Ruivenkamp C,
|
||
Nava C,
|
||
Heron D,
|
||
Nardello R,
|
||
Iacomino M,
|
||
Minetti C,
|
||
Skabar A,
|
||
Fabretto A;
|
||
SYNAPS Study Group,
|
||
Raspall-Chaure M,
|
||
Chez M,
|
||
Tsai A,
|
||
Fassi E,
|
||
Shinawi M,
|
||
Constantino JN,
|
||
De Zorzi R,
|
||
Fortuna S,
|
||
Kok F,
|
||
Keren B,
|
||
Bonneau D,
|
||
Choi M,
|
||
Benzeev B,
|
||
Zara F,
|
||
Mefford HC,
|
||
Scheffer IE,
|
||
Clayton-Smith J,
|
||
Macaya A,
|
||
Rothman JE,
|
||
Eichler EE,
|
||
Kullmann DM,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Jul 12;10(1):3094.
|
||
doi: 10.1038/s41467-019-10910-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31300657" target="_blank">31300657</a><a href="/pmc/articles/PMC6626132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31079897">Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnell-Luria AH,
|
||
Pais LS,
|
||
Faundes V,
|
||
Wood JC,
|
||
Sveden A,
|
||
Luria V,
|
||
Abou Jamra R,
|
||
Accogli A,
|
||
Amburgey K,
|
||
Anderlid BM,
|
||
Azzarello-Burri S,
|
||
Basinger AA,
|
||
Bianchini C,
|
||
Bird LM,
|
||
Buchert R,
|
||
Carre W,
|
||
Ceulemans S,
|
||
Charles P,
|
||
Cox H,
|
||
Culliton L,
|
||
Currò A;
|
||
Deciphering Developmental Disorders (DDD) Study,
|
||
Demurger F,
|
||
Dowling JJ,
|
||
Duban-Bedu B,
|
||
Dubourg C,
|
||
Eiset SE,
|
||
Escobar LF,
|
||
Ferrarini A,
|
||
Haack TB,
|
||
Hashim M,
|
||
Heide S,
|
||
Helbig KL,
|
||
Helbig I,
|
||
Heredia R,
|
||
Héron D,
|
||
Isidor B,
|
||
Jonasson AR,
|
||
Joset P,
|
||
Keren B,
|
||
Kok F,
|
||
Kroes HY,
|
||
Lavillaureix A,
|
||
Lu X,
|
||
Maas SM,
|
||
Maegawa GHB,
|
||
Marcelis CLM,
|
||
Mark PR,
|
||
Masruha MR,
|
||
McLaughlin HM,
|
||
McWalter K,
|
||
Melchinger EU,
|
||
Mercimek-Andrews S,
|
||
Nava C,
|
||
Pendziwiat M,
|
||
Person R,
|
||
Ramelli GP,
|
||
Ramos LLP,
|
||
Rauch A,
|
||
Reavey C,
|
||
Renieri A,
|
||
Rieß A,
|
||
Sanchez-Valle A,
|
||
Sattar S,
|
||
Saunders C,
|
||
Schwarz N,
|
||
Smol T,
|
||
Srour M,
|
||
Steindl K,
|
||
Syrbe S,
|
||
Taylor JC,
|
||
Telegrafi A,
|
||
Thiffault I,
|
||
Trauner DA,
|
||
van der Linden H Jr,
|
||
van Koningsbruggen S,
|
||
Villard L,
|
||
Vogel I,
|
||
Vogt J,
|
||
Weber YG,
|
||
Wentzensen IM,
|
||
Widjaja E,
|
||
Zak J,
|
||
Baxter S,
|
||
Banka S,
|
||
Rodan LH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 Jun 6;104(6):1210-1222.
|
||
Epub 2019 May 9
|
||
doi: 10.1016/j.ajhg.2019.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31079897" target="_blank">31079897</a><a href="/pmc/articles/PMC6556837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30929742">Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salpietro V,
|
||
Malintan NT,
|
||
Llano-Rivas I,
|
||
Spaeth CG,
|
||
Efthymiou S,
|
||
Striano P,
|
||
Vandrovcova J,
|
||
Cutrupi MC,
|
||
Chimenz R,
|
||
David E,
|
||
Di Rosa G,
|
||
Marce-Grau A,
|
||
Raspall-Chaure M,
|
||
Martin-Hernandez E,
|
||
Zara F,
|
||
Minetti C;
|
||
Deciphering Developmental Disorders Study;
|
||
SYNAPS Study Group,
|
||
Bello OD,
|
||
De Zorzi R,
|
||
Fortuna S,
|
||
Dauber A,
|
||
Alkhawaja M,
|
||
Sultan T,
|
||
Mankad K,
|
||
Vitobello A,
|
||
Thomas Q,
|
||
Mau-Them FT,
|
||
Faivre L,
|
||
Martinez-Azorin F,
|
||
Prada CE,
|
||
Macaya A,
|
||
Kullmann DM,
|
||
Rothman JE,
|
||
Krishnakumar SS,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 Apr 4;104(4):721-730.
|
||
Epub 2019 Mar 28
|
||
doi: 10.1016/j.ajhg.2019.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30929742" target="_blank">30929742</a><a href="/pmc/articles/PMC6451933" 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%20104%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 (32)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38331678">Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hortigüela MM,
|
||
Martínez-Biarge M,
|
||
Conejo D,
|
||
Vega-Del-Val C,
|
||
Arnaez J;
|
||
Grupo ARAHIP</span><br />
|
||
<span class="medgenPMjournal">An Pediatr (Engl Ed)</span>
|
||
2024 Feb;100(2):104-114.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1016/j.anpede.2024.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38331678" target="_blank">38331678</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38279250">Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavirani B,
|
||
Spagnoli C,
|
||
Caraffi SG,
|
||
Cavalli A,
|
||
Cesaroni CA,
|
||
Cutillo G,
|
||
De Giorgis V,
|
||
Frattini D,
|
||
Marchetti GB,
|
||
Masnada S,
|
||
Peron A,
|
||
Rizzi S,
|
||
Varesio C,
|
||
Spaccini L,
|
||
Vignoli A,
|
||
Canevini MP,
|
||
Veggiotti P,
|
||
Garavelli L,
|
||
Fusco C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 19;25(2)
|
||
doi: 10.3390/ijms25021248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38279250" target="_blank">38279250</a><a href="/pmc/articles/PMC10816990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37177896">Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riant F,
|
||
Burglen L,
|
||
Corpechot M,
|
||
Robert J,
|
||
Durr A,
|
||
Solé G,
|
||
Petit F,
|
||
Freihuber C,
|
||
De Marco O,
|
||
Sarret C,
|
||
Castelnovo G,
|
||
Devillard F,
|
||
Afenjar A,
|
||
Héron B,
|
||
Lasserve ET</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Sep;104(3):365-370.
|
||
Epub 2023 May 13
|
||
doi: 10.1111/cge.14358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37177896" target="_blank">37177896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34732400">Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schon KR,
|
||
Horvath R,
|
||
Wei W,
|
||
Calabrese C,
|
||
Tucci A,
|
||
Ibañez K,
|
||
Ratnaike T,
|
||
Pitceathly RDS,
|
||
Bugiardini E,
|
||
Quinlivan R,
|
||
Hanna MG,
|
||
Clement E,
|
||
Ashton E,
|
||
Sayer JA,
|
||
Brennan P,
|
||
Josifova D,
|
||
Izatt L,
|
||
Fratter C,
|
||
Nesbitt V,
|
||
Barrett T,
|
||
McMullen DJ,
|
||
Smith A,
|
||
Deshpande C,
|
||
Smithson SF,
|
||
Festenstein R,
|
||
Canham N,
|
||
Caulfield M,
|
||
Houlden H,
|
||
Rahman S,
|
||
Chinnery PF;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Nov 3;375:e066288.
|
||
doi: 10.1136/bmj-2021-066288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34732400" target="_blank">34732400</a><a href="/pmc/articles/PMC8565085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25958227">A simple behavioral-developmental checklist versus formal screening for children in an epilepsy center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eom S,
|
||
Dezort C,
|
||
Fisher B,
|
||
Zelko F,
|
||
Berg AT</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2015 May;46:84-7.
|
||
Epub 2015 May 7
|
||
doi: 10.1016/j.yebeh.2015.04.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25958227" target="_blank">25958227</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20104%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 (27)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35297524">Bone health, intellectual disability and epilepsy: An observational community-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winterhalder R,
|
||
McCabe J,
|
||
Young C,
|
||
Lamb K,
|
||
Sawhney I,
|
||
Jory C,
|
||
O'Dwyer M,
|
||
Shankar R</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2022 Jun;145(6):753-761.
|
||
Epub 2022 Mar 17
|
||
doi: 10.1111/ane.13612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35297524" target="_blank">35297524</a><a href="/pmc/articles/PMC9310839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34732400">Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schon KR,
|
||
Horvath R,
|
||
Wei W,
|
||
Calabrese C,
|
||
Tucci A,
|
||
Ibañez K,
|
||
Ratnaike T,
|
||
Pitceathly RDS,
|
||
Bugiardini E,
|
||
Quinlivan R,
|
||
Hanna MG,
|
||
Clement E,
|
||
Ashton E,
|
||
Sayer JA,
|
||
Brennan P,
|
||
Josifova D,
|
||
Izatt L,
|
||
Fratter C,
|
||
Nesbitt V,
|
||
Barrett T,
|
||
McMullen DJ,
|
||
Smith A,
|
||
Deshpande C,
|
||
Smithson SF,
|
||
Festenstein R,
|
||
Canham N,
|
||
Caulfield M,
|
||
Houlden H,
|
||
Rahman S,
|
||
Chinnery PF;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Nov 3;375:e066288.
|
||
doi: 10.1136/bmj-2021-066288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34732400" target="_blank">34732400</a><a href="/pmc/articles/PMC8565085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
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Chapman K,
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Gaillard WD,
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Glauser T,
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Morgan LA,
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Payne ET,
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Piantino J,
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Tchapyjnikov D,
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Wainwright MS,
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Wilfong A,
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Loddenkemper T;
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Epub 2020 Sep 10
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<span class="bold">PMID: </span><a href="/pubmed/26791321" target="_blank">26791321</a><a href="/pmc/articles/PMC5340722" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20104%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
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Blok LS,
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Cappuccio G,
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Murch O,
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de Vries B,
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Johannesen KM,
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Westphall IT,
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Hughes SS,
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Smithson S,
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Evans J,
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Dudding-Byth T,
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Simon M,
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van Binsbergen E,
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Herkert JC,
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Beunders G,
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Oppermann H,
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Bakal M,
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Møller RS,
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Rubboli G,
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Epub 2023 May 10
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<span class="bold">PMID: </span><a href="/pubmed/37165752" target="_blank">37165752</a><a href="/pmc/articles/PMC10330344" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34732400">Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.</a></div>
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Rahman S,
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Chinnery PF;
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Genomics England Research Consortium</span><br />
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2021 Nov 3;375:e066288.
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<span class="bold">PMID: </span><a href="/pubmed/34732400" target="_blank">34732400</a><a href="/pmc/articles/PMC8565085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32913024">First-line medication dosing in pediatric refractory status epilepticus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasquez A,
|
||
Gaínza-Lein M,
|
||
Abend NS,
|
||
Amengual-Gual M,
|
||
Anderson A,
|
||
Arya R,
|
||
Brenton JN,
|
||
Carpenter JL,
|
||
Chapman K,
|
||
Clark J,
|
||
Farias-Moeller R,
|
||
Gaillard WD,
|
||
Glauser T,
|
||
Goldstein JL,
|
||
Goodkin HP,
|
||
Guerriero RM,
|
||
Kapur K,
|
||
Lai YC,
|
||
McDonough TL,
|
||
Mikati MA,
|
||
Morgan LA,
|
||
Novotny EJ,
|
||
Ostendorf AP,
|
||
Payne ET,
|
||
Peariso K,
|
||
Piantino J,
|
||
Riviello JJ,
|
||
Sannagowdara K,
|
||
Tasker RC,
|
||
Tchapyjnikov D,
|
||
Topjian A,
|
||
Wainwright MS,
|
||
Wilfong A,
|
||
Williams K,
|
||
Loddenkemper T;
|
||
Pediatric Status Epilepticus Research Group (pSERG)</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Nov 10;95(19):e2683-e2696.
|
||
Epub 2020 Sep 10
|
||
doi: 10.1212/WNL.0000000000010828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32913024" target="_blank">32913024</a><a href="/pmc/articles/PMC7713738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25958227">A simple behavioral-developmental checklist versus formal screening for children in an epilepsy center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eom S,
|
||
Dezort C,
|
||
Fisher B,
|
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Zelko F,
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Berg AT</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
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2015 May;46:84-7.
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Epub 2015 May 7
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doi: 10.1016/j.yebeh.2015.04.023.
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<span class="bold">PMID: </span><a href="/pubmed/25958227" target="_blank">25958227</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20104%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38331678">Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hortigüela MM,
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Martínez-Biarge M,
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Conejo D,
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Vega-Del-Val C,
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Arnaez J;
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Grupo ARAHIP</span><br />
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<span class="medgenPMjournal">An Pediatr (Engl Ed)</span>
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||
2024 Feb;100(2):104-114.
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Epub 2024 Feb 7
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doi: 10.1016/j.anpede.2024.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38331678" target="_blank">38331678</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37583270">Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagarajan B,
|
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Gowda VK,
|
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Yoganathan S,
|
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Sharawat IK,
|
||
Srivastava K,
|
||
Vora N,
|
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Badheka R,
|
||
Danda S,
|
||
Kalane U,
|
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Kaur A,
|
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Madaan P,
|
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Mehta S,
|
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Negi S,
|
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Panda PK,
|
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Rajadhyaksha S,
|
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Saini AG,
|
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Saini L,
|
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Shah S,
|
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Srinivasan VM,
|
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Suthar R,
|
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Thomas M,
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Vyas S,
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Sankhyan N,
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Sahu JK</span><br />
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<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1383-1404.
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||
Epub 2023 Aug 25
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doi: 10.1002/epi4.12811.
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<span class="bold">PMID: </span><a href="/pubmed/37583270" target="_blank">37583270</a><a href="/pmc/articles/PMC10690684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37177896">Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riant F,
|
||
Burglen L,
|
||
Corpechot M,
|
||
Robert J,
|
||
Durr A,
|
||
Solé G,
|
||
Petit F,
|
||
Freihuber C,
|
||
De Marco O,
|
||
Sarret C,
|
||
Castelnovo G,
|
||
Devillard F,
|
||
Afenjar A,
|
||
Héron B,
|
||
Lasserve ET</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Sep;104(3):365-370.
|
||
Epub 2023 May 13
|
||
doi: 10.1111/cge.14358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37177896" target="_blank">37177896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165752">POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi A,
|
||
Blok LS,
|
||
Neuser S,
|
||
Klöckner C,
|
||
Platzer K,
|
||
Faivre LO,
|
||
Weigand H,
|
||
Dentici ML,
|
||
Tartaglia M,
|
||
Niceta M,
|
||
Alfieri P,
|
||
Srivastava S,
|
||
Coulter D,
|
||
Smith L,
|
||
Vinorum K,
|
||
Cappuccio G,
|
||
Brunetti-Pierri N,
|
||
Torun D,
|
||
Arslan M,
|
||
Lauridsen MF,
|
||
Murch O,
|
||
Irving R,
|
||
Lynch SA,
|
||
Mehta SG,
|
||
Carmichael J,
|
||
Zonneveld-Huijssoon E,
|
||
de Vries B,
|
||
Kleefstra T,
|
||
Johannesen KM,
|
||
Westphall IT,
|
||
Hughes SS,
|
||
Smithson S,
|
||
Evans J,
|
||
Dudding-Byth T,
|
||
Simon M,
|
||
van Binsbergen E,
|
||
Herkert JC,
|
||
Beunders G,
|
||
Oppermann H,
|
||
Bakal M,
|
||
Møller RS,
|
||
Rubboli G,
|
||
Bayat A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Aug;104(2):186-197.
|
||
Epub 2023 May 10
|
||
doi: 10.1111/cge.14353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165752" target="_blank">37165752</a><a href="/pmc/articles/PMC10330344" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25958227">A simple behavioral-developmental checklist versus formal screening for children in an epilepsy center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eom S,
|
||
Dezort C,
|
||
Fisher B,
|
||
Zelko F,
|
||
Berg AT</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2015 May;46:84-7.
|
||
Epub 2015 May 7
|
||
doi: 10.1016/j.yebeh.2015.04.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25958227" target="_blank">25958227</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20104%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">
|
||
<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/36948217">KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falsaperla R,
|
||
Criscione R,
|
||
Cimino C,
|
||
Pisani F,
|
||
Ruggieri M</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2023 Oct;54(5):297-307.
|
||
Epub 2023 Mar 22
|
||
doi: 10.1055/a-2060-4576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36948217" target="_blank">36948217</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36476360">CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Della Vecchia S,
|
||
Lopergolo D,
|
||
Trovato R,
|
||
Pasquariello R,
|
||
Ferrari AR,
|
||
Bartolini E</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2023 Jan;104:32-37.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1016/j.seizure.2022.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476360" target="_blank">36476360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%20104%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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