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<meta name="keywords" content="C0393702, astatic epilepsies, myoclonic, astatic epilepsy, myoclonic, disease or syndrome, doose syndrome, emas, emats, emats - epilepsy with myoclonic-atonic seizures, epilepsies, myoclonic astatic, epilepsy with myoclonic atonic seizures, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic-atonic seizures, epilepsy with myoclono-astatic crisis, epilepsy, myoclonic astatic, generalised myoclonic-atonic seizure, generalized myoclonic-atonic seizure, mae, myoclonic astatic epilepsies, myoclonic astatic epilepsy, myoclonic atonic epilepsy, myoclonic atonic seizures, myoclonic-astatic epilepsy, myoclonic-astatic epilepsy in early childhood, myoclonic-astatic seizure, myoclonic-astatic seizures, myoclonic-atonic epilepsy, myoclonic-atonic seizure, myoclonic-atonic seizures, slc6a1, 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="SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by mild-to-severe developmental delay and/or intellectual disability, hypotonia, epilepsy, movement disorders (e.g., tremor, stereotypies, ataxia), and neurobehavioral and/or psychiatric manifestations (e.g., autism spectrum disorder, attention-deficit/hyperactivity disorder, aggression, anxiety, and/or sleep disturbances). Language skills, particularly expressive language, are often more significantly affected than motor development. Developmental regression has been reported. Gastrointestinal manifestations (e.g., constipation, diarrhea) are also common." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=98284
|
||
ConceptID=C0393702
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epilepsy with myoclonic atonic seizures<span class="h1sub">(MAE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98284</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:">C0393702</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Generalized myoclonic-atonic seizure; Myoclonic atonic seizures</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Doose syndrome (230421008); EMAtS - epilepsy with myoclonic-atonic seizures (230421008); Myoclonic-atonic epilepsy (230421008); Epilepsy with myoclonic-atonic seizures (230421008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div></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="SLC6A1 - ID: 6529 - NCBI Gene" href="/gene/6529" class="medgenPMinfo">SLC6A1</a> (3p25.3)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/1173">AP2M1</a>, <a target="_blank" href="/gene/1106">CHD2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011170">HP:0011170</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014633" target="_blank">MONDO:0014633</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616421" target="_blank">616421</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1942">ORPHA1942</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK589173" target="_blank">SLC6A1-Related Neurodevelopmental Disorder</a></div><div>SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by mild-to-severe developmental delay and/or intellectual disability, hypotonia, epilepsy, movement disorders (e.g., tremor, stereotypies, ataxia), and neurobehavioral and/or psychiatric manifestations (e.g., autism spectrum disorder, attention-deficit/hyperactivity disorder, aggression, anxiety, and/or sleep disturbances). Language skills, particularly expressive language, are often more significantly affected than motor development. Developmental regression has been reported. Gastrointestinal manifestations (e.g., constipation, diarrhea) are also common. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Summary" target="NBK589173">Summary</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Diagnosis" target="NBK589173">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Clinical_Characteristics" target="NBK589173">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Genetically_Related_Allelic_D" target="NBK589173">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Differential_Diagnosis" target="NBK589173">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Management" target="NBK589173">Management</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Genetic_Counseling" target="NBK589173">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Resources" target="NBK589173">Resources</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Molecular_Genetics" target="NBK589173">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.Chapter_Notes" target="NBK589173">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK589173#slc6a1-ndd.References" target="NBK589173">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kimberly Goodspeed | Scott Demarest | Katrine Johannesen<i>, et. al.</i> <a href="/books/NBK589173" target="NBK589173" title="NCBI Bookshelf: SLC6A1-Related Neurodevelopmental Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%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>
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||
<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>
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||
<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_98284"><div><strong>Epilepsy with myoclonic atonic seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98284</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:">C0393702</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by mild-to-severe developmental delay and/or intellectual disability, hypotonia, epilepsy, movement disorders (e.g., tremor, stereotypies, ataxia), and neurobehavioral and/or psychiatric manifestations (e.g., autism spectrum disorder, attention-deficit/hyperactivity disorder, aggression, anxiety, and/or sleep disturbances). Language skills, particularly expressive language, are often more significantly affected than motor development. Developmental regression has been reported. Gastrointestinal manifestations (e.g., constipation, diarrhea) are also common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98284">Feature record</a> | <a href="/medgen?term=%22Epilepsy%20with%20myoclonic%20atonic%20seizures%22%5BClinical%20Features%5D%20OR%2098284%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_148288"><div><strong>Eyelid myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148288</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.">C0751349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Marked, involuntary jerking of the eyelids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148288">Feature record</a> | <a href="/medgen?term=%22Eyelid%20myoclonus%22%5BClinical%20Features%5D%20OR%20148288%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_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%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_867393"><div><strong>Delayed CNS myelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867393</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4316903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%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 musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_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_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed CNS myelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy with myoclonic atonic seizures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eyelid myoclonus</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_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0393702[DISCUI]&test_type=Clinical" ref="ncbi_uid=98284">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98284" target="_blank" href="/omim/137165">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK589173/" ref="ncbi_uid=98284">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98284" ref="ncbi_uid=98284">V</a></span></span><span class="TLline">Epilepsy with myoclonic atonic seizures</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809278[DISCUI]&test_type=Clinical" ref="ncbi_uid=815608">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815608" target="_blank" href="/omim/602119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK333201/" ref="ncbi_uid=815608">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815608" ref="ncbi_uid=815608">V</a></span></span><span class="TLline"><a href="/medgen/815608" ref="tree=GTR&ncbi_uid=815608&link_uid=815608" title="View MedGen record for 'Developmental and epileptic encephalopathy 94'">Developmental and epileptic encephalopathy 94</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5231497[DISCUI]&test_type=Clinical" ref="ncbi_uid=1684702">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684702" target="_blank" href="/omim/601024">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1684702" ref="ncbi_uid=1684702">V</a></span></span><span class="TLline"><a href="/medgen/1684702" ref="tree=GTR&ncbi_uid=1684702&link_uid=1684702" title="View MedGen record for 'Intellectual developmental disorder 60 with seizures'">Intellectual developmental disorder 60 with seizures</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843031" ref="tree=MeSH" title="MedGen record for Childhood-onset epilepsy syndrome">Childhood-onset epilepsy syndrome</a></span><ul><li><span class="matched_ds">Epilepsy with myoclonic atonic seizures</span><ul><li><span class="TLline"><a href="/medgen/815608" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy 94">Developmental and epileptic encephalopathy 94</a></span></li><li><span class="TLline"><a href="/medgen/1684702" ref="tree=MeSH" title="MedGen record for Intellectual developmental disorder 60 with seizures">Intellectual developmental disorder 60 with seizures</a></span></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_98284"><div><strong>Epilepsy with myoclonic atonic seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98284</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:">C0393702</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by mild-to-severe developmental delay and/or intellectual disability, hypotonia, epilepsy, movement disorders (e.g., tremor, stereotypies, ataxia), and neurobehavioral and/or psychiatric manifestations (e.g., autism spectrum disorder, attention-deficit/hyperactivity disorder, aggression, anxiety, and/or sleep disturbances). Language skills, particularly expressive language, are often more significantly affected than motor development. Developmental regression has been reported. Gastrointestinal manifestations (e.g., constipation, diarrhea) are also common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98284">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766575"><div><strong>Cerebellar dysfunction with variable cognitive and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766575</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.">C3553661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766575">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684867"><div><strong>Intellectual developmental disorder 61</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684867</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.">C5231400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (Snijders Blok et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684702"><div><strong>Intellectual developmental disorder 60 with seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684702</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.">C5231497</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684702">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794276"><div><strong>Yoon-Bellen neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794276</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.">C5562066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yoon-Bellen neurodevelopmental syndrome (YOBELN) is an autosomal recessive disorder characterized mainly by global developmental delay with variably impaired intellectual development. The manifestations and severity of the phenotype are highly variable. Additional neurologic features may include hypotonia, spasticity, ataxia, hearing loss, visual problems, seizures, and nonspecific anomalies on brain imaging (summary by Yap et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794276">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854923"><div><strong>Generalized epilepsy with febrile seizures plus, type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854923</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.">C5935592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized epilepsy with febrile seizures plus type 12 (GEFSP12) is characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Some mutation carriers do not have febrile seizures, but demonstrate focal, generalized, rare myoclonic-atonic seizures, or nonspecific epilepsy consistent with idiopathic generalized epilepsy (EIG; see 600669). The transmission pattern of GEFSP12 is consistent with autosomal dominant inheritance with variable expressivity within families and incomplete penetrance (Heron et al., 2021). For a discussion of genetic heterogeneity of GEFS+, see 604233.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854923">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1857742"><div><strong>Developmental and epileptic encephalopathy 116</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857742</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.">C5935615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-116 (DEE116) is an autosomal dominant disorder characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry (Jones et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1857742">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar dysfunction with variable cognitive and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 116</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy with myoclonic atonic seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854923" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized epilepsy with febrile seizures plus, type 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder 60 with seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder 61</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yoon-Bellen neurodevelopmental syndrome</a></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/37182500">Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caraballo RH,
|
||
Reyes Valenzuela G,
|
||
Fortini S,
|
||
Espeche A,
|
||
Gamboni B,
|
||
Silva W,
|
||
Semprino M,
|
||
Fasulo L,
|
||
Chacón S,
|
||
Gallo A,
|
||
Galicchio S,
|
||
Cachia P</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2023 Jun;143:109245.
|
||
Epub 2023 May 12
|
||
doi: 10.1016/j.yebeh.2023.109245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37182500" target="_blank">37182500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34883415">Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oguni H</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Jan;36:37-50.
|
||
Epub 2021 Dec 1
|
||
doi: 10.1016/j.ejpn.2021.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34883415" target="_blank">34883415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22epilepsy%20with%20myoclonic%20atonic%20seizures%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</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/38470175">Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiltrout K,
|
||
Brimble E,
|
||
Poduri A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 May;65(5):1428-1438.
|
||
Epub 2024 Mar 12
|
||
doi: 10.1111/epi.17913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38470175" target="_blank">38470175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34562678">Structural brain abnormalities in epilepsy with myoclonic atonic seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denervaud S,
|
||
Korff C,
|
||
Fluss J,
|
||
Kalser J,
|
||
Roulet-Perez E,
|
||
Hagmann P,
|
||
Lebon S</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2021 Nov;177:106771.
|
||
Epub 2021 Sep 21
|
||
doi: 10.1016/j.eplepsyres.2021.106771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34562678" target="_blank">34562678</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33383403">Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joshi C,
|
||
Nickels K,
|
||
Demarest S,
|
||
Eltze C,
|
||
Cross JH,
|
||
Wirrell E</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2021 Feb;85:12-18.
|
||
Epub 2020 Dec 28
|
||
doi: 10.1016/j.seizure.2020.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33383403" target="_blank">33383403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%20with%20myoclonic%20atonic%20seizures%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37182500">Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caraballo RH,
|
||
Reyes Valenzuela G,
|
||
Fortini S,
|
||
Espeche A,
|
||
Gamboni B,
|
||
Silva W,
|
||
Semprino M,
|
||
Fasulo L,
|
||
Chacón S,
|
||
Gallo A,
|
||
Galicchio S,
|
||
Cachia P</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2023 Jun;143:109245.
|
||
Epub 2023 May 12
|
||
doi: 10.1016/j.yebeh.2023.109245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37182500" target="_blank">37182500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34883415">Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oguni H</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Jan;36:37-50.
|
||
Epub 2021 Dec 1
|
||
doi: 10.1016/j.ejpn.2021.11.009.
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<span class="bold">PMID: </span><a href="/pubmed/34883415" target="_blank">34883415</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
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Kossoff EH,
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Eschbach K,
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Joshi C</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2021 Jan;62(1):120-127.
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Epub 2020 Nov 14
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doi: 10.1111/epi.16752.
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<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/30286391">Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eschbach K,
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Moss A,
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Joshi C,
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Angione K,
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Smith G,
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Dempsey A,
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Juarez-Colunga E,
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Demarest ST</span><br />
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<span class="medgenPMjournal">Epilepsy Res</span>
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2018 Nov;147:95-101.
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<span class="bold">PMID: </span><a href="/pubmed/30286391" target="_blank">30286391</a><a href="/pmc/articles/PMC6223641" 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=%22Epilepsy%20with%20myoclonic%20atonic%20seizures%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 (28)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39348199">POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Symonds JD,
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Park KL,
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Mignot C,
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Macleod S,
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Armstrong M,
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Ashrafian H,
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Bernard G,
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Brown K,
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Brunklaus A,
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Callaghan M,
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Classen G,
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Cohen JS,
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Cutcutache I,
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de Sainte Agathe JM,
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Dyment D,
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Elliot KS,
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Isapof A,
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Joss S,
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Keren B,
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Marble M,
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McTague A,
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Osmond M,
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Page M,
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Planes M,
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Platzer K,
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Redon S,
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Reese J,
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Saenz M,
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Smith-Hicks C,
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Stobo D,
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Stockhaus C,
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Vuillaume ML,
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Wolf NI,
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Wakeling EL,
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Yoon G,
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Knight JC,
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Zuberi SM</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2024 Nov;65(11):3303-3323.
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Epub 2024 Sep 30
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doi: 10.1111/epi.18115.
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<span class="bold">PMID: </span><a href="/pubmed/39348199" target="_blank">39348199</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37182500">Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Caraballo RH,
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Reyes Valenzuela G,
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Fortini S,
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Espeche A,
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Gamboni B,
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Silva W,
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Semprino M,
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Fasulo L,
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Chacón S,
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Gallo A,
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Galicchio S,
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Cachia P</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
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2023 Jun;143:109245.
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Epub 2023 May 12
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doi: 10.1016/j.yebeh.2023.109245.
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<span class="bold">PMID: </span><a href="/pubmed/37182500" target="_blank">37182500</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
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Kossoff EH,
|
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Eschbach K,
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Joshi C</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
|
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2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23583052">Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caraballo RH,
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Chamorro N,
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Darra F,
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Fortini S,
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Arroyo H</span><br />
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<span class="medgenPMjournal">Pediatr Neurol</span>
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2013 May;48(5):355-62.
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<span class="bold">PMID: </span><a href="/pubmed/23583052" target="_blank">23583052</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/20722665">Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelley SA,
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Kossoff EH</span><br />
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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2010 Nov;52(11):988-93.
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Epub 2010 Aug 16
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doi: 10.1111/j.1469-8749.2010.03744.x.
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<span class="bold">PMID: </span><a href="/pubmed/20722665" target="_blank">20722665</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%20with%20myoclonic%20atonic%20seizures%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38795333">Population-based study of rare epilepsy incidence in a US urban population.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Barbour K,
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Tian N,
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Yozawitz EG,
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Wolf S,
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McGoldrick PE,
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Sands TT,
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Nelson A,
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Basma N,
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Grinspan ZM</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2024 Aug;65(8):2341-2353.
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Epub 2024 May 25
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doi: 10.1111/epi.18029.
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<span class="bold">PMID: </span><a href="/pubmed/38795333" target="_blank">38795333</a><a href="/pmc/articles/PMC11315636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35503717">International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
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Wirrell EC,
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Scheffer IE,
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Nabbout R,
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Riney K,
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Samia P,
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Guerreiro M,
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Gwer S,
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Zuberi SM,
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Wilmshurst JM,
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Yozawitz E,
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Pressler R,
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Hirsch E,
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Wiebe S,
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Cross HJ,
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Perucca E,
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Moshé SL,
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Tinuper P,
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Auvin S</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2022 Jun;63(6):1398-1442.
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Epub 2022 May 3
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doi: 10.1111/epi.17241.
|
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<span class="bold">PMID: </span><a href="/pubmed/35503717" target="_blank">35503717</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
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<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23583052">Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caraballo RH,
|
||
Chamorro N,
|
||
Darra F,
|
||
Fortini S,
|
||
Arroyo H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2013 May;48(5):355-62.
|
||
doi: 10.1016/j.pediatrneurol.2012.12.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23583052" target="_blank">23583052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20722665">Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelley SA,
|
||
Kossoff EH</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2010 Nov;52(11):988-93.
|
||
Epub 2010 Aug 16
|
||
doi: 10.1111/j.1469-8749.2010.03744.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20722665" target="_blank">20722665</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%20with%20myoclonic%20atonic%20seizures%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39348199">POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Symonds JD,
|
||
Park KL,
|
||
Mignot C,
|
||
Macleod S,
|
||
Armstrong M,
|
||
Ashrafian H,
|
||
Bernard G,
|
||
Brown K,
|
||
Brunklaus A,
|
||
Callaghan M,
|
||
Classen G,
|
||
Cohen JS,
|
||
Cutcutache I,
|
||
de Sainte Agathe JM,
|
||
Dyment D,
|
||
Elliot KS,
|
||
Isapof A,
|
||
Joss S,
|
||
Keren B,
|
||
Marble M,
|
||
McTague A,
|
||
Osmond M,
|
||
Page M,
|
||
Planes M,
|
||
Platzer K,
|
||
Redon S,
|
||
Reese J,
|
||
Saenz M,
|
||
Smith-Hicks C,
|
||
Stobo D,
|
||
Stockhaus C,
|
||
Vuillaume ML,
|
||
Wolf NI,
|
||
Wakeling EL,
|
||
Yoon G,
|
||
Knight JC,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Nov;65(11):3303-3323.
|
||
Epub 2024 Sep 30
|
||
doi: 10.1111/epi.18115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39348199" target="_blank">39348199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38781976">Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Silva DB,
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Trinidad M,
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Ljungdahl A,
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Revalde JL,
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Berguig GY,
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Wallace W,
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Patrick CS,
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Bomba L,
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Arkin M,
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Dong S,
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Estrada K,
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Hutchinson K,
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LeBowitz JH,
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Schlessinger A,
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Johannesen KM,
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Møller RS,
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Giacomini KM,
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Froelich S,
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Sanders SJ,
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Wuster A</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2024 Jun 6;111(6):1222-1238.
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Epub 2024 May 22
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doi: 10.1016/j.ajhg.2024.04.021.
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<span class="bold">PMID: </span><a href="/pubmed/38781976" target="_blank">38781976</a><a href="/pmc/articles/PMC11179425" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37277988">Sleep and respiratory abnormalities in adults with developmental and epileptic encephalopathies using polysomnography and video-EEG monitoring.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Sivathamboo S,
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Myers KA,
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Pattichis A,
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White EJ,
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Ku KN,
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O'Brien TJ,
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Perucca P,
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Kwan P</span><br />
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<span class="medgenPMjournal">Epilepsia Open</span>
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doi: 10.1002/epi4.12772.
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<span class="bold">PMID: </span><a href="/pubmed/37277988" target="_blank">37277988</a><a href="/pmc/articles/PMC10472408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37182500">Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caraballo RH,
|
||
Reyes Valenzuela G,
|
||
Fortini S,
|
||
Espeche A,
|
||
Gamboni B,
|
||
Silva W,
|
||
Semprino M,
|
||
Fasulo L,
|
||
Chacón S,
|
||
Gallo A,
|
||
Galicchio S,
|
||
Cachia P</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2023 Jun;143:109245.
|
||
Epub 2023 May 12
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||
doi: 10.1016/j.yebeh.2023.109245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37182500" target="_blank">37182500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32469098">Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang S,
|
||
Addis L,
|
||
Smith A,
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||
Topp SD,
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Pendziwiat M,
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Mei D,
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Parker A,
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Agrawal S,
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Hughes E,
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Lascelles K,
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Williams RE,
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Fallon P,
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Robinson R,
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Cross HJ,
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Hedderly T,
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Eltze C,
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Kerr T,
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Desurkar A,
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Hussain N,
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Kinali M,
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Bagnasco I,
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Vassallo G,
|
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Whitehouse W,
|
||
Goyal S,
|
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Absoud M;
|
||
EuroEPINOMICS-RES Consortium,
|
||
Møller RS,
|
||
Helbig I,
|
||
Weber YG,
|
||
Marini C,
|
||
Guerrini R,
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Simpson MA,
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Pal DK</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2020 May;61(5):995-1007.
|
||
Epub 2020 May 29
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||
doi: 10.1111/epi.16508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32469098" target="_blank">32469098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%20with%20myoclonic%20atonic%20seizures%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 (14)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0393702%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393702%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393702%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0393702%5bDISCUI%5d" target="_blank">See all (20)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616421" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1942" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epilepsy%20with%20myoclonic%20atonic%20seizures" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22epilepsy%20with%20myoclonic%20atonic%20seizures%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Epilepsy%20with%20myoclonic%20atonic%20seizures%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=137165" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6529[geneid]" target="_blank">View SLC6A1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=616421" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/myoclonic_atonic_epilepsy" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epilepsy%20with%20myoclonic%20atonic%20seizures" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2169/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/36780407" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed?term=Epilepsy%20with%20myoclonic%20atonic%20seizures%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=98284" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=98284" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca715db15b832ebc29b3bc">Epilepsy with myoclonic atonic seizures</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca715ba68b6b5afc904867">C0014544[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(711)</span></a>
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