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<meta name="keywords" content="C3554195, dee14, developmental and epileptic encephalopathy 14, developmental and epileptic encephalopathy, 14, disease or syndrome, early infantile epileptic encephalopathy 14, early infantile epileptic encephalopathy caused by mutation in kcnt1, eiee14, epileptic encephalopathy, early infantile, 14, epileptic encephalopathy, early infantile, type 14, kcnt1, kcnt1 early infantile epileptic encephalopathy, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). EIMFS is characterized by seizures, typically focal and asynchronous, beginning in the first six months of life with associated developmental plateau or regression. Autonomic manifestations (e.g., perioral cyanosis, flushing, apnea) are common. Seizures are intractable to multiple anticonvulsants and progress to become nearly continuous by age six to nine months. ADNFLE is characterized by clusters of nocturnal motor seizures that vary from simple arousals to hyperkinetic events with tonic or dystonic features. Individuals with KCNT1-related ADNFLE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems than individuals with ADNFLE resulting from other causes. Less common seizure phenotypes in individuals with KCNT1-related epilepsy include West syndrome, Ohtahara syndrome, early myoclonic encephalopathy, leukodystrophy and/or leukoencephalopathy, focal epilepsy, and multifocal epilepsy. Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound developmental delay, and additional movement disorders. Other systemic manifestations including pulmonary hemorrhage caused by prominent systemic-to-pulmonary collateral arteries or cardiac arrhythmia have been reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Developmental and epileptic encephalopathy, 14 (Concept Id: C3554195)
- MedGen - NCBI</title>
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<!--
UID=767109
ConceptID=C3554195
-->
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK525917/bin/kcnt1-epilepsy-Image001.gif" src-large="/books/NBK525917/bin/kcnt1-epilepsy-Image001.jpg" /></a><br /><a href="/books/NBK525917/figure/kcnt1-epilepsy.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 14<span class="h1sub">(DEE14)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767109</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)&#10;Click for more information.">C3554195</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>DEE14; Early infantile epileptic encephalopathy 14</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="KCNT1 - ID: 57582 - NCBI Gene" href="/gene/57582" class="medgenPMinfo">KCNT1</a> (9q34.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0013989" target="_blank">MONDO:0013989</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/614959" target="_blank">614959</a></td></tr>
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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/NBK525917" target="_blank">KCNT1-Related Epilepsy</a></div><div>KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). EIMFS is characterized by seizures, typically focal and asynchronous, beginning in the first six months of life with associated developmental plateau or regression. Autonomic manifestations (e.g., perioral cyanosis, flushing, apnea) are common. Seizures are intractable to multiple anticonvulsants and progress to become nearly continuous by age six to nine months. ADNFLE is characterized by clusters of nocturnal motor seizures that vary from simple arousals to hyperkinetic events with tonic or dystonic features. Individuals with KCNT1-related ADNFLE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems than individuals with ADNFLE resulting from other causes. Less common seizure phenotypes in individuals with KCNT1-related epilepsy include West syndrome, Ohtahara syndrome, early myoclonic encephalopathy, leukodystrophy and/or leukoencephalopathy, focal epilepsy, and multifocal epilepsy. Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound developmental delay, and additional movement disorders. Other systemic manifestations including pulmonary hemorrhage caused by prominent systemic-to-pulmonary collateral arteries or cardiac arrhythmia have been reported. [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/NBK525917#kcnt1-epilepsy.Summary" target="NBK525917">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Diagnosis" target="NBK525917">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Clinical_Characteristics" target="NBK525917">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Genetically_Related_Allel" target="NBK525917">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Differential_Diagnosis" target="NBK525917">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Management" target="NBK525917">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Genetic_Counseling" target="NBK525917">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Resources" target="NBK525917">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Molecular_Genetics" target="NBK525917">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.Chapter_Notes" target="NBK525917">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK525917#kcnt1-epilepsy.References" target="NBK525917">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Tracy Gertler  |  David Bearden  |  Arin Bhattacharjee<i>, et. al.</i>   <a href="/books/NBK525917" target="NBK525917" title="NCBI Bookshelf: KCNT1-Related Epilepsy">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).&#13;
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.  <a target="_blank" href="http://www.omim.org/entry/614959">http://www.omim.org/entry/614959</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay.<br /><br />The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.<br /><br />Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent.<br /><br />Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills.<br /><br />Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy">https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy</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_40341"><div><strong>Clonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40341</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)&#10;Click for more information.">C0009024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/40341">Feature record</a> | <a href="/medgen?term=%22Clonus%22%5BClinical%20Features%5D%20OR%2040341%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5237"><div><strong>Focal motor seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5237</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)&#10;Click for more information.">C0016399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5237">Feature record</a> | <a href="/medgen?term=%22Focal%20motor%20seizure%22%5BClinical%20Features%5D%20OR%205237%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4899"><div><strong>Gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4899</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)&#10;Click for more information.">C0017639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Gliosis is the focal proliferation of glial cells in the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4899">Feature record</a> | <a href="/medgen?term=%22Gliosis%22%5BClinical%20Features%5D%20OR%204899%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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)&#10;Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19617"><div><strong>Tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19617</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)&#10;Click for more information.">C0034372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19617">Feature record</a> | <a href="/medgen?term=%22Tetraplegia%22%5BClinical%20Features%5D%20OR%2019617%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</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)&#10;Click for more information.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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)&#10;Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_155749"><div><strong>Focal clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155749</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)&#10;Click for more information.">C0752323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155749">Feature record</a> | <a href="/medgen?term=%22Focal%20clonic%20seizure%22%5BClinical%20Features%5D%20OR%20155749%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_199867"><div><strong>Focal tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0752324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/199867">Feature record</a> | <a href="/medgen?term=%22Focal%20tonic%20seizure%22%5BClinical%20Features%5D%20OR%20199867%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_303190"><div><strong>Reduced eye contact</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>303190</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)&#10;Click for more information.">C1445953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A reduced frequency or duration of eye contact.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/303190">Feature record</a> | <a href="/medgen?term=%22Reduced%20eye%20contact%22%5BClinical%20Features%5D%20OR%20303190%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322935"><div><strong>Generalized tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322935</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1836508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322935">Feature record</a> | <a href="/medgen?term=%22Generalized%20tonic%20seizure%22%5BClinical%20Features%5D%20OR%20322935%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</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)&#10;Click for more information.">C1850496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_395200"><div><strong>Inability to walk by childhood/adolescence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395200</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)&#10;Click for more information.">C1859200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395200">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%20by%20childhood%2Fadolescence%22%5BClinical%20Features%5D%20OR%20395200%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_766364"><div><strong>Profound global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766364</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)&#10;Click for more information.">C3553450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A profound delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766364">Feature record</a> | <a href="/medgen?term=%22Profound%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20766364%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)&#10;Click for more information.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_869073"><div><strong>Interictal epileptiform activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869073</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)&#10;Click for more information.">C4023491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/869073">Feature record</a> | <a href="/medgen?term=%22Interictal%20epileptiform%20activity%22%5BClinical%20Features%5D%20OR%20869073%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_869081"><div><strong>Generalized clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869081</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)&#10;Click for more information.">C4023499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/869081">Feature record</a> | <a href="/medgen?term=%22Generalized%20clonic%20seizure%22%5BClinical%20Features%5D%20OR%20869081%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_869091"><div><strong>Focal autonomic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869091</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)&#10;Click for more information.">C4023509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/869091">Feature record</a> | <a href="/medgen?term=%22Focal%20autonomic%20seizure%22%5BClinical%20Features%5D%20OR%20869091%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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)&#10;Click for more information.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1643639"><div><strong>Brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643639</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)&#10;Click for more information.">C4551584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Partial or complete wasting (loss) of brain tissue that was once present.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1643639">Feature record</a> | <a href="/medgen?term=%22Brain%20atrophy%22%5BClinical%20Features%5D%20OR%201643639%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1712446"><div><strong>Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1712446</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)&#10;Click for more information.">C5397783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1712446">Feature record</a> | <a href="/medgen?term=%22Focal%20autonomic%20seizure%20with%20palpitations%2Ftachycardia%2Fbradycardia%2Fasystole%22%5BClinical%20Features%5D%20OR%201712446%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1841580"><div><strong>Generalized-onset motor seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841580</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)&#10;Click for more information.">C5779702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841580">Feature record</a> | <a href="/medgen?term=%22Generalized-onset%20motor%20seizure%22%5BClinical%20Features%5D%20OR%201841580%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)&#10;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_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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)&#10;Click for more information.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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)&#10;Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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)&#10;Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><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_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clonus</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_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal autonomic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1712446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal clonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal motor seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal tonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869081" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized clonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized tonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized-onset motor seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gliosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk by childhood/adolescence</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interictal epileptiform activity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Profound global developmental delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_303190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced eye contact</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetraplegia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/38137001">STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Freibauer A,
Wohlleben M,
Boelman C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Dec 5;14(12)
doi: 10.3390/genes14122179.
<span class="bold">PMID: </span><a href="/pubmed/38137001" target="_blank">38137001</a><a href="/pmc/articles/PMC10742812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS</span><br />
<span class="medgenPMjournal">Brain</span>
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31152643">Different Clinical Expression of Anxiety Disorders in Children and Adolescents: Assessment and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pop-Jordanova N</span><br />
<span class="medgenPMjournal">Pril (Makedon Akad Nauk Umet Odd Med Nauki)</span>
2019 May 1;40(1):5-40.
doi: 10.2478/prilozi-2019-0001.
<span class="bold">PMID: </span><a href="/pubmed/31152643" target="_blank">31152643</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2014)%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 (55)</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/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS</span><br />
<span class="medgenPMjournal">Brain</span>
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34114611">KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonardi CM,
Heyne HO,
Fiannacca M,
Fitzgerald MP,
Gardella E,
Gunning B,
Olofsson K,
Lesca G,
Verbeek N,
Stamberger H,
Striano P,
Zara F,
Mancardi MM,
Nava C,
Syrbe S,
Buono S,
Baulac S,
Coppola A,
Weckhuysen S,
Schoonjans AS,
Ceulemans B,
Sarret C,
Baumgartner T,
Muhle H,
Portes VD,
Toulouse J,
Nougues MC,
Rossi M,
Demarquay G,
Ville D,
Hirsch E,
Maurey H,
Willems M,
de Bellescize J,
Altuzarra CD,
Villeneuve N,
Bartolomei F,
Picard F,
Hornemann F,
Koolen DA,
Kroes HY,
Reale C,
Fenger CD,
Tan WH,
Dibbens L,
Bearden DR,
Møller RS,
Rubboli G</span><br />
<span class="medgenPMjournal">Brain</span>
2021 Dec 31;144(12):3635-3650.
doi: 10.1093/brain/awab219.
<span class="bold">PMID: </span><a href="/pubmed/34114611" target="_blank">34114611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
Shaw BJ,
Burgess R,
Mei D,
Montomoli M,
Xie H,
Myers CT,
Bennett MF,
XiangWei W,
Williams D,
Maas SM,
Brooks AS,
Mancini GMS,
van de Laar IMBH,
van Hagen JM,
Ware TL,
Webster RI,
Malone S,
Berkovic SF,
Kalnins RM,
Sicca F,
Korenke GC,
van Ravenswaaij-Arts CMA,
Hildebrand MS,
Mefford HC,
Jiang Y,
Guerrini R,
Scheffer IE</span><br />
<span class="medgenPMjournal">Neurology</span>
2019 Jan 8;92(2):e96-e107.
Epub 2018 Dec 12
doi: 10.1212/WNL.0000000000006729.
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29768152">Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Devinsky O,
Patel AD,
Cross JH,
Villanueva V,
Wirrell EC,
Privitera M,
Greenwood SM,
Roberts C,
Checketts D,
VanLandingham KE,
Zuberi SM;
GWPCARE3 Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2018 May 17;378(20):1888-1897.
doi: 10.1056/NEJMoa1714631.
<span class="bold">PMID: </span><a href="/pubmed/29768152" target="_blank">29768152</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2014%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 (509)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
Benítez A,
Roth J,
Andrews JS,
Shah D,
Butcher E,
Jones A,
Cross JH</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2024 May;65(5):1240-1263.
Epub 2024 Jan 22
doi: 10.1111/epi.17866.
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36192182">The Phenotypic Continuum of ATP1A3-Related Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M</span><br />
<span class="medgenPMjournal">Neurology</span>
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
<span class="bold">PMID: </span><a href="/pubmed/36192182" target="_blank">36192182</a><a href="/pmc/articles/PMC9576304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35499850">Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
<span class="bold">PMID: </span><a href="/pubmed/35499850" target="_blank">35499850</a><a href="/pmc/articles/PMC9062770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34707297">ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bruel AL,
Vitobello A,
Thiffault I,
Manwaring L,
Willing M,
Agrawal PB,
Bayat A,
Kitzler TM,
Brownstein CA,
Genetti CA,
Gonzalez-Heydrich J,
Jayakar P,
Zyskind JW,
Zhu Z,
Vachet C,
Wilson GR,
Pruniski B,
Goyette AM,
Duffourd Y,
Thauvin-Robinet C,
Philippe C,
Faivre L</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2022 Jan;30(1):111-116.
Epub 2021 Oct 28
doi: 10.1038/s41431-021-00985-9.
<span class="bold">PMID: </span><a href="/pubmed/34707297" target="_blank">34707297</a><a href="/pmc/articles/PMC8738743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
Pagani G,
Familiari A,
Khalil A,
Sagies TL,
Malinger G,
Leibovitz Z,
Garel C,
Moutard ML,
Pilu G,
Bhide A,
Acharya G,
Leombroni M,
Manzoli L,
Papageorghiou A,
Prefumo F</span><br />
<span class="medgenPMjournal">Pediatrics</span>
2016 Sep;138(3)
doi: 10.1542/peds.2016-0445.
<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2014%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 (382)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35499850">Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
<span class="bold">PMID: </span><a href="/pubmed/35499850" target="_blank">35499850</a><a href="/pmc/articles/PMC9062770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS</span><br />
<span class="medgenPMjournal">Brain</span>
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
Shaw BJ,
Burgess R,
Mei D,
Montomoli M,
Xie H,
Myers CT,
Bennett MF,
XiangWei W,
Williams D,
Maas SM,
Brooks AS,
Mancini GMS,
van de Laar IMBH,
van Hagen JM,
Ware TL,
Webster RI,
Malone S,
Berkovic SF,
Kalnins RM,
Sicca F,
Korenke GC,
van Ravenswaaij-Arts CMA,
Hildebrand MS,
Mefford HC,
Jiang Y,
Guerrini R,
Scheffer IE</span><br />
<span class="medgenPMjournal">Neurology</span>
2019 Jan 8;92(2):e96-e107.
Epub 2018 Dec 12
doi: 10.1212/WNL.0000000000006729.
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29768152">Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Devinsky O,
Patel AD,
Cross JH,
Villanueva V,
Wirrell EC,
Privitera M,
Greenwood SM,
Roberts C,
Checketts D,
VanLandingham KE,
Zuberi SM;
GWPCARE3 Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2018 May 17;378(20):1888-1897.
doi: 10.1056/NEJMoa1714631.
<span class="bold">PMID: </span><a href="/pubmed/29768152" target="_blank">29768152</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29395273">Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
Marsh ED,
French JA,
Mazurkiewicz-Beldzinska M,
Benbadis SR,
Joshi C,
Lyons PD,
Taylor A,
Roberts C,
Sommerville K;
GWPCARE4 Study Group</span><br />
<span class="medgenPMjournal">Lancet</span>
2018 Mar 17;391(10125):1085-1096.
Epub 2018 Jan 26
doi: 10.1016/S0140-6736(18)30136-3.
<span class="bold">PMID: </span><a href="/pubmed/29395273" target="_blank">29395273</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2014%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 (233)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
Benítez A,
Roth J,
Andrews JS,
Shah D,
Butcher E,
Jones A,
Cross JH</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2024 May;65(5):1240-1263.
Epub 2024 Jan 22
doi: 10.1111/epi.17866.
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS</span><br />
<span class="medgenPMjournal">Brain</span>
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33880529">ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators</span><br />
<span class="medgenPMjournal">Brain</span>
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
<span class="bold">PMID: </span><a href="/pubmed/33880529" target="_blank">33880529</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15033196">Fetal stroke.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozduman K,
Pober BR,
Barnes P,
Copel JA,
Ogle EA,
Duncan CC,
Ment LR</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2004 Mar;30(3):151-62.
doi: 10.1016/j.pediatrneurol.2003.08.004.
<span class="bold">PMID: </span><a href="/pubmed/15033196" target="_blank">15033196</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2014%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 (282)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36196777">Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan J,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Agarwal A,
Lock M,
Dai D,
Farfel GM,
Galer BS,
Gammaitoni AR,
Polega S,
Davis R,
Gil-Nagel A</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2023 Jan;64(1):139-151.
Epub 2022 Nov 9
doi: 10.1111/epi.17431.
<span class="bold">PMID: </span><a href="/pubmed/36196777" target="_blank">36196777</a><a href="/pmc/articles/PMC10099582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36192182">The Phenotypic Continuum of ATP1A3-Related Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M</span><br />
<span class="medgenPMjournal">Neurology</span>
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
<span class="bold">PMID: </span><a href="/pubmed/36192182" target="_blank">36192182</a><a href="/pmc/articles/PMC9576304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35499850">Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
<span class="bold">PMID: </span><a href="/pubmed/35499850" target="_blank">35499850</a><a href="/pmc/articles/PMC9062770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34114611">KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonardi CM,
Heyne HO,
Fiannacca M,
Fitzgerald MP,
Gardella E,
Gunning B,
Olofsson K,
Lesca G,
Verbeek N,
Stamberger H,
Striano P,
Zara F,
Mancardi MM,
Nava C,
Syrbe S,
Buono S,
Baulac S,
Coppola A,
Weckhuysen S,
Schoonjans AS,
Ceulemans B,
Sarret C,
Baumgartner T,
Muhle H,
Portes VD,
Toulouse J,
Nougues MC,
Rossi M,
Demarquay G,
Ville D,
Hirsch E,
Maurey H,
Willems M,
de Bellescize J,
Altuzarra CD,
Villeneuve N,
Bartolomei F,
Picard F,
Hornemann F,
Koolen DA,
Kroes HY,
Reale C,
Fenger CD,
Tan WH,
Dibbens L,
Bearden DR,
Møller RS,
Rubboli G</span><br />
<span class="medgenPMjournal">Brain</span>
2021 Dec 31;144(12):3635-3650.
doi: 10.1093/brain/awab219.
<span class="bold">PMID: </span><a href="/pubmed/34114611" target="_blank">34114611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33880529">ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators</span><br />
<span class="medgenPMjournal">Brain</span>
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
<span class="bold">PMID: </span><a href="/pubmed/33880529" target="_blank">33880529</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2014%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 (310)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
Yang L,
Xiao F,
Yan K,
Zhou W</span><br />
<span class="medgenPMjournal">Epilepsy Res</span>
2024 May;202:107363.
Epub 2024 Apr 17
doi: 10.1016/j.eplepsyres.2024.107363.
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38540691">Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stoian A,
Bajko Z,
Bălașa R,
Andone S,
Stoian M,
Ormenișan I,
Muntean C,
Bănescu C</span><br />
<span class="medgenPMjournal">Biomolecules</span>
2024 Feb 23;14(3)
doi: 10.3390/biom14030270.
<span class="bold">PMID: </span><a href="/pubmed/38540691" target="_blank">38540691</a><a href="/pmc/articles/PMC10968252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
Benítez A,
Roth J,
Andrews JS,
Shah D,
Butcher E,
Jones A,
Cross JH</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2024 May;65(5):1240-1263.
Epub 2024 Jan 22
doi: 10.1111/epi.17866.
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36526544">Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
Kaminiów K,
Yetkin O,
Tekturk P,
Baykan B,
Leiz S,
Kluger G,
Striano P</span><br />
<span class="medgenPMjournal">Seizure</span>
2024 Mar;116:14-23.
Epub 2022 Dec 8
doi: 10.1016/j.seizure.2022.12.001.
<span class="bold">PMID: </span><a href="/pubmed/36526544" target="_blank">36526544</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
Trinka E,
Russo E,
Del Giovane C,
Matricardi S,
Meletti S,
Striano P,
Damavandi PT,
Silvestrini M,
Brigo F</span><br />
<span class="medgenPMjournal">Drugs</span>
2023 Oct;83(15):1409-1424.
Epub 2023 Sep 11
doi: 10.1007/s40265-023-01936-y.
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2014%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<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=C3554195%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
<li><a href="/gtr/tests?term=C3554195%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C3554195%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
<li><a href="/gtr/tests?term=C3554195%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3554195%5bDISCUI%5d" target="_blank">See all (28)</a></total></li>
</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=614959" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%2014" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2014)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=608167" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=57582[geneid]" target="_blank">View KCNT1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=614959" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_14" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Developmental%20and%20epileptic%20encephalopathy,%2014" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15886/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/30234941" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
</li>
<li>
<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy,%2014" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy,%2014%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
</li>
</ul>
</div>
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=767109" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=767109" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3554195[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3554195[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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