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<meta name="keywords" content="C4310737, dee40, developmental and epileptic encephalopathy 40, developmental and epileptic encephalopathy, 40, disease or syndrome, early infantile epileptic encephalopathy caused by mutation in guf1, eiee40, epileptic encephalopathy, early infantile, 40, epileptic encephalopathy, early infantile, 40; eiee40, epileptic encephalopathy, early infantile, type 40, guf1, guf1 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="Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by Alfaiz et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=934704
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ConceptID=C4310737
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 40<span class="h1sub">(DEE40)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4310737</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DEE40; Epileptic encephalopathy, early infantile, 40</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="GUF1 - ID: 60558 - NCBI Gene" href="/gene/60558" class="medgenPMinfo">GUF1</a> (4p12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014895" target="_blank">MONDO:0014895</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617065" target="_blank">617065</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by Alfaiz et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_930396"><div><strong>Sudden unexpected death in epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>930396</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4304727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/930396">Feature record</a> | <a href="/medgen?term=%22Sudden%20unexpected%20death%20in%20epilepsy%22%5BClinical%20Features%5D%20OR%20930396%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%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) 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_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39313"><div><strong>Choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39313</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39313">Feature record</a> | <a href="/medgen?term=%22Choreoathetosis%22%5BClinical%20Features%5D%20OR%2039313%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_658719"><div><strong>Spastic tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658719</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0575059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic weakness affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/658719">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraparesis%22%5BClinical%20Features%5D%20OR%20658719%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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) 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_892508"><div><strong>Intellectual disability, profound</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892508</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3161330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Profound mental retardation is defined as an intelligence quotient (IQ) below 20.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892508">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20profound%22%5BClinical%20Features%5D%20OR%20892508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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) 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_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) 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_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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) 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_569214"><div><strong>Hyaline membranes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>569214</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0333563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Body Substance</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Hyaline%20membranes%22%5BClinical%20Features%5D%20OR%20569214%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li></ul></li><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_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></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_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_39313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choreoathetosis</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_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, profound</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</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_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_658719" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraparesis</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></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_569214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyaline membranes</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_930396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden unexpected death in epilepsy</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</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/37596007">Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
|
||
Mulhern S,
|
||
Sheidley BR,
|
||
Boodhoo F,
|
||
Buts S,
|
||
Chandler NJ,
|
||
Cobb J,
|
||
Curtis M,
|
||
Higginbotham EJ,
|
||
Holland J,
|
||
Khan T,
|
||
Koh J,
|
||
Liang NSY,
|
||
McRae L,
|
||
Nesbitt SE,
|
||
Oby BT,
|
||
Paternoster B,
|
||
Patton A,
|
||
Rose G,
|
||
Scotchman E,
|
||
Valentine R,
|
||
Wiltrout KN;
|
||
Gene-STEPS Study Group;
|
||
IPCHiP Executive Committee,
|
||
Hayeems RZ,
|
||
Jain P,
|
||
Lunke S,
|
||
Marshall CR,
|
||
Rockowitz S,
|
||
Sebire NJ,
|
||
Stark Z,
|
||
White SM,
|
||
Chitty LS,
|
||
Cross JH,
|
||
Scheffer IE,
|
||
Chau V,
|
||
Costain G,
|
||
Poduri A,
|
||
Howell KB,
|
||
McTague A</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Sep;22(9):812-825.
|
||
doi: 10.1016/S1474-4422(23)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37596007" target="_blank">37596007</a><a href="/pmc/articles/PMC11860300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35718920">Molecular and clinical descriptions of patients with GABA(A) receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillard PY,
|
||
Baer S,
|
||
Schaefer É,
|
||
Desnous B,
|
||
Villeneuve N,
|
||
Lépine A,
|
||
Fabre A,
|
||
Lacoste C,
|
||
El Chehadeh S,
|
||
Piton A,
|
||
Porter LF,
|
||
Perriard C,
|
||
Wardé MA,
|
||
Spitz MA,
|
||
Laugel V,
|
||
Lesca G,
|
||
Putoux A,
|
||
Ville D,
|
||
Mignot C,
|
||
Héron D,
|
||
Nabbout R,
|
||
Barcia G,
|
||
Rio M,
|
||
Roubertie A,
|
||
Meyer P,
|
||
Paquis-Flucklinger V,
|
||
Patat O,
|
||
Lefranc J,
|
||
Gerard M;
|
||
Epigen Consortium,
|
||
de Bellescize J,
|
||
Villard L,
|
||
De Saint Martin A,
|
||
Milh M</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Oct;63(10):2519-2533.
|
||
Epub 2022 Aug 13
|
||
doi: 10.1111/epi.17336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35718920" target="_blank">35718920</a><a href="/pmc/articles/PMC9804453" 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%2040)%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 (24)</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/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
|
||
Bjørk MH,
|
||
Alvestad S,
|
||
Gissler M,
|
||
Igland J,
|
||
Leinonen MK,
|
||
Sun Y,
|
||
Zoega H,
|
||
Cohen JM,
|
||
Furu K,
|
||
Tomson T,
|
||
Christensen J</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2023 Jun 1;80(6):568-577.
|
||
doi: 10.1001/jamaneurol.2023.0674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35718920">Molecular and clinical descriptions of patients with GABA(A) receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillard PY,
|
||
Baer S,
|
||
Schaefer É,
|
||
Desnous B,
|
||
Villeneuve N,
|
||
Lépine A,
|
||
Fabre A,
|
||
Lacoste C,
|
||
El Chehadeh S,
|
||
Piton A,
|
||
Porter LF,
|
||
Perriard C,
|
||
Wardé MA,
|
||
Spitz MA,
|
||
Laugel V,
|
||
Lesca G,
|
||
Putoux A,
|
||
Ville D,
|
||
Mignot C,
|
||
Héron D,
|
||
Nabbout R,
|
||
Barcia G,
|
||
Rio M,
|
||
Roubertie A,
|
||
Meyer P,
|
||
Paquis-Flucklinger V,
|
||
Patat O,
|
||
Lefranc J,
|
||
Gerard M;
|
||
Epigen Consortium,
|
||
de Bellescize J,
|
||
Villard L,
|
||
De Saint Martin A,
|
||
Milh M</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Oct;63(10):2519-2533.
|
||
Epub 2022 Aug 13
|
||
doi: 10.1111/epi.17336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35718920" target="_blank">35718920</a><a href="/pmc/articles/PMC9804453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35190816">Assessing the landscape of STXBP1-related disorders in 534 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
|
||
Parthasarathy S,
|
||
Ruggiero SM,
|
||
Balagura G,
|
||
Fitch E,
|
||
Helbig K,
|
||
Gan J,
|
||
Ganesan S,
|
||
Kaufman MC,
|
||
Ellis CA,
|
||
Lewis-Smith D,
|
||
Galer P,
|
||
Cunningham K,
|
||
O'Brien M,
|
||
Cosico M,
|
||
Baker K,
|
||
Darling A,
|
||
Veiga de Goes F,
|
||
El Achkar CM,
|
||
Doering JH,
|
||
Furia F,
|
||
García-Cazorla Á,
|
||
Gardella E,
|
||
Geertjens L,
|
||
Klein C,
|
||
Kolesnik-Taylor A,
|
||
Lammertse H,
|
||
Lee J,
|
||
Mackie A,
|
||
Misra-Isrie M,
|
||
Olson H,
|
||
Sexton E,
|
||
Sheidley B,
|
||
Smith L,
|
||
Sotero L,
|
||
Stamberger H,
|
||
Syrbe S,
|
||
Thalwitzer KM,
|
||
van Berkel A,
|
||
van Haelst M,
|
||
Yuskaitis C,
|
||
Weckhuysen S,
|
||
Prosser B,
|
||
Son Rigby C,
|
||
Demarest S,
|
||
Pierce S,
|
||
Zhang Y,
|
||
Møller RS,
|
||
Bruining H,
|
||
Poduri A,
|
||
Zara F,
|
||
Verhage M,
|
||
Striano P,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 3;145(5):1668-1683.
|
||
doi: 10.1093/brain/awab327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35190816" target="_blank">35190816</a><a href="/pmc/articles/PMC9166568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32198361">ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson PM,
|
||
Jahanshad N,
|
||
Ching CRK,
|
||
Salminen LE,
|
||
Thomopoulos SI,
|
||
Bright J,
|
||
Baune BT,
|
||
Bertolín S,
|
||
Bralten J,
|
||
Bruin WB,
|
||
Bülow R,
|
||
Chen J,
|
||
Chye Y,
|
||
Dannlowski U,
|
||
de Kovel CGF,
|
||
Donohoe G,
|
||
Eyler LT,
|
||
Faraone SV,
|
||
Favre P,
|
||
Filippi CA,
|
||
Frodl T,
|
||
Garijo D,
|
||
Gil Y,
|
||
Grabe HJ,
|
||
Grasby KL,
|
||
Hajek T,
|
||
Han LKM,
|
||
Hatton SN,
|
||
Hilbert K,
|
||
Ho TC,
|
||
Holleran L,
|
||
Homuth G,
|
||
Hosten N,
|
||
Houenou J,
|
||
Ivanov I,
|
||
Jia T,
|
||
Kelly S,
|
||
Klein M,
|
||
Kwon JS,
|
||
Laansma MA,
|
||
Leerssen J,
|
||
Lueken U,
|
||
Nunes A,
|
||
Neill JO,
|
||
Opel N,
|
||
Piras F,
|
||
Piras F,
|
||
Postema MC,
|
||
Pozzi E,
|
||
Shatokhina N,
|
||
Soriano-Mas C,
|
||
Spalletta G,
|
||
Sun D,
|
||
Teumer A,
|
||
Tilot AK,
|
||
Tozzi L,
|
||
van der Merwe C,
|
||
Van Someren EJW,
|
||
van Wingen GA,
|
||
Völzke H,
|
||
Walton E,
|
||
Wang L,
|
||
Winkler AM,
|
||
Wittfeld K,
|
||
Wright MJ,
|
||
Yun JY,
|
||
Zhang G,
|
||
Zhang-James Y,
|
||
Adhikari BM,
|
||
Agartz I,
|
||
Aghajani M,
|
||
Aleman A,
|
||
Althoff RR,
|
||
Altmann A,
|
||
Andreassen OA,
|
||
Baron DA,
|
||
Bartnik-Olson BL,
|
||
Marie Bas-Hoogendam J,
|
||
Baskin-Sommers AR,
|
||
Bearden CE,
|
||
Berner LA,
|
||
Boedhoe PSW,
|
||
Brouwer RM,
|
||
Buitelaar JK,
|
||
Caeyenberghs K,
|
||
Cecil CAM,
|
||
Cohen RA,
|
||
Cole JH,
|
||
Conrod PJ,
|
||
De Brito SA,
|
||
de Zwarte SMC,
|
||
Dennis EL,
|
||
Desrivieres S,
|
||
Dima D,
|
||
Ehrlich S,
|
||
Esopenko C,
|
||
Fairchild G,
|
||
Fisher SE,
|
||
Fouche JP,
|
||
Francks C,
|
||
Frangou S,
|
||
Franke B,
|
||
Garavan HP,
|
||
Glahn DC,
|
||
Groenewold NA,
|
||
Gurholt TP,
|
||
Gutman BA,
|
||
Hahn T,
|
||
Harding IH,
|
||
Hernaus D,
|
||
Hibar DP,
|
||
Hillary FG,
|
||
Hoogman M,
|
||
Hulshoff Pol HE,
|
||
Jalbrzikowski M,
|
||
Karkashadze GA,
|
||
Klapwijk ET,
|
||
Knickmeyer RC,
|
||
Kochunov P,
|
||
Koerte IK,
|
||
Kong XZ,
|
||
Liew SL,
|
||
Lin AP,
|
||
Logue MW,
|
||
Luders E,
|
||
Macciardi F,
|
||
Mackey S,
|
||
Mayer AR,
|
||
McDonald CR,
|
||
McMahon AB,
|
||
Medland SE,
|
||
Modinos G,
|
||
Morey RA,
|
||
Mueller SC,
|
||
Mukherjee P,
|
||
Namazova-Baranova L,
|
||
Nir TM,
|
||
Olsen A,
|
||
Paschou P,
|
||
Pine DS,
|
||
Pizzagalli F,
|
||
Rentería ME,
|
||
Rohrer JD,
|
||
Sämann PG,
|
||
Schmaal L,
|
||
Schumann G,
|
||
Shiroishi MS,
|
||
Sisodiya SM,
|
||
Smit DJA,
|
||
Sønderby IE,
|
||
Stein DJ,
|
||
Stein JL,
|
||
Tahmasian M,
|
||
Tate DF,
|
||
Turner JA,
|
||
van den Heuvel OA,
|
||
van der Wee NJA,
|
||
van der Werf YD,
|
||
van Erp TGM,
|
||
van Haren NEM,
|
||
van Rooij D,
|
||
van Velzen LS,
|
||
Veer IM,
|
||
Veltman DJ,
|
||
Villalon-Reina JE,
|
||
Walter H,
|
||
Whelan CD,
|
||
Wilde EA,
|
||
Zarei M,
|
||
Zelman V;
|
||
ENIGMA Consortium</span><br />
|
||
<span class="medgenPMjournal">Transl Psychiatry</span>
|
||
2020 Mar 20;10(1):100.
|
||
doi: 10.1038/s41398-020-0705-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32198361" target="_blank">32198361</a><a href="/pmc/articles/PMC7083923" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27372845">Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bikson M,
|
||
Grossman P,
|
||
Thomas C,
|
||
Zannou AL,
|
||
Jiang J,
|
||
Adnan T,
|
||
Mourdoukoutas AP,
|
||
Kronberg G,
|
||
Truong D,
|
||
Boggio P,
|
||
Brunoni AR,
|
||
Charvet L,
|
||
Fregni F,
|
||
Fritsch B,
|
||
Gillick B,
|
||
Hamilton RH,
|
||
Hampstead BM,
|
||
Jankord R,
|
||
Kirton A,
|
||
Knotkova H,
|
||
Liebetanz D,
|
||
Liu A,
|
||
Loo C,
|
||
Nitsche MA,
|
||
Reis J,
|
||
Richardson JD,
|
||
Rotenberg A,
|
||
Turkeltaub PE,
|
||
Woods AJ</span><br />
|
||
<span class="medgenPMjournal">Brain Stimul</span>
|
||
2016 Sep-Oct;9(5):641-661.
|
||
Epub 2016 Jun 15
|
||
doi: 10.1016/j.brs.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27372845" target="_blank">27372845</a><a href="/pmc/articles/PMC5007190" 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%2040%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 (282)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34748075">MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coursimault J,
|
||
Guerrot AM,
|
||
Morrow MM,
|
||
Schramm C,
|
||
Zamora FM,
|
||
Shanmugham A,
|
||
Liu S,
|
||
Zou F,
|
||
Bilan F,
|
||
Le Guyader G,
|
||
Bruel AL,
|
||
Denommé-Pichon AS,
|
||
Faivre L,
|
||
Tran Mau-Them F,
|
||
Tessarech M,
|
||
Colin E,
|
||
El Chehadeh S,
|
||
Gérard B,
|
||
Schaefer E,
|
||
Cogne B,
|
||
Isidor B,
|
||
Nizon M,
|
||
Doummar D,
|
||
Valence S,
|
||
Héron D,
|
||
Keren B,
|
||
Mignot C,
|
||
Coutton C,
|
||
Devillard F,
|
||
Alaix AS,
|
||
Amiel J,
|
||
Colleaux L,
|
||
Munnich A,
|
||
Poirier K,
|
||
Rio M,
|
||
Rondeau S,
|
||
Barcia G,
|
||
Callewaert B,
|
||
Dheedene A,
|
||
Kumps C,
|
||
Vergult S,
|
||
Menten B,
|
||
Chung WK,
|
||
Hernan R,
|
||
Larson A,
|
||
Nori K,
|
||
Stewart S,
|
||
Wheless J,
|
||
Kresge C,
|
||
Pletcher BA,
|
||
Caumes R,
|
||
Smol T,
|
||
Sigaudy S,
|
||
Coubes C,
|
||
Helm M,
|
||
Smith R,
|
||
Morrison J,
|
||
Wheeler PG,
|
||
Kritzer A,
|
||
Jouret G,
|
||
Afenjar A,
|
||
Deleuze JF,
|
||
Olaso R,
|
||
Boland A,
|
||
Poitou C,
|
||
Frebourg T,
|
||
Houdayer C,
|
||
Saugier-Veber P,
|
||
Nicolas G,
|
||
Lecoquierre F</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2022 Jan;141(1):65-80.
|
||
Epub 2021 Nov 8
|
||
doi: 10.1007/s00439-021-02383-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34748075" target="_blank">34748075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34374989">Spectrum of neuro-genetic disorders in the United Arab Emirates national population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleh S,
|
||
Beyyumi E,
|
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Hertecant J,
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2021 Nov;100(5):573-600.
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<span class="bold">PMID: </span><a href="/pubmed/34374989" target="_blank">34374989</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33632673">Developmental and epileptic encephalopathies: recognition and approaches to care.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Raga S,
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Specchio N,
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Rheims S,
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Wilmshurst JM</span><br />
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2021 Feb 1;23(1):40-52.
|
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<span class="bold">PMID: </span><a href="/pubmed/33632673" target="_blank">33632673</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32151273">Low-grade developmental and epilepsy associated brain tumors: a critical update 2020.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Slegers RJ,
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2020 Mar 9;8(1):27.
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<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
|
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Pagani G,
|
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Familiari A,
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Khalil A,
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Sagies TL,
|
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Malinger G,
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Leibovitz Z,
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Garel C,
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Moutard ML,
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Pilu G,
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Bhide A,
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Acharya G,
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Leombroni M,
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Manzoli L,
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Papageorghiou A,
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Prefumo F</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
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2016 Sep;138(3)
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doi: 10.1542/peds.2016-0445.
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<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2040%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 (191)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
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Bjørk MH,
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Alvestad S,
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Gissler M,
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Igland J,
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Leinonen MK,
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Sun Y,
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Zoega H,
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Cohen JM,
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Furu K,
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Tomson T,
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Christensen J</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
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2023 Jun 1;80(6):568-577.
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doi: 10.1001/jamaneurol.2023.0674.
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<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
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Balestrini S,
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Wirrell EC,
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Walker MC</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2021 Oct 26;97(17):817-831.
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Epub 2021 Sep 7
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doi: 10.1212/WNL.0000000000012744.
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<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/27372845">Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bikson M,
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Grossman P,
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Thomas C,
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Zannou AL,
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Jiang J,
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Adnan T,
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Mourdoukoutas AP,
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Kronberg G,
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Truong D,
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Boggio P,
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Brunoni AR,
|
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Charvet L,
|
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Fregni F,
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Fritsch B,
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Gillick B,
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Hamilton RH,
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Hampstead BM,
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Jankord R,
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Kirton A,
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Knotkova H,
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Liebetanz D,
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Liu A,
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Loo C,
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Nitsche MA,
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Reis J,
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Richardson JD,
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Rotenberg A,
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Turkeltaub PE,
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Woods AJ</span><br />
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<span class="medgenPMjournal">Brain Stimul</span>
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2016 Sep-Oct;9(5):641-661.
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Epub 2016 Jun 15
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doi: 10.1016/j.brs.2016.06.004.
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<span class="bold">PMID: </span><a href="/pubmed/27372845" target="_blank">27372845</a><a href="/pmc/articles/PMC5007190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/14596657">Infantile spasms.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zupanc ML</span><br />
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<span class="medgenPMjournal">Expert Opin Pharmacother</span>
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2003 Nov;4(11):2039-48.
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doi: 10.1517/14656566.4.11.2039.
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<span class="bold">PMID: </span><a href="/pubmed/14596657" target="_blank">14596657</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12667106">Pharmacotherapy of paediatric epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bergin AM</span><br />
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<span class="medgenPMjournal">Expert Opin Pharmacother</span>
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2003 Apr;4(4):421-31.
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doi: 10.1517/14656566.4.4.421.
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<span class="bold">PMID: </span><a href="/pubmed/12667106" target="_blank">12667106</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2040%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 (118)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
|
||
Bjørk MH,
|
||
Alvestad S,
|
||
Gissler M,
|
||
Igland J,
|
||
Leinonen MK,
|
||
Sun Y,
|
||
Zoega H,
|
||
Cohen JM,
|
||
Furu K,
|
||
Tomson T,
|
||
Christensen J</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2023 Jun 1;80(6):568-577.
|
||
doi: 10.1001/jamaneurol.2023.0674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
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Balestrini S,
|
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Wirrell EC,
|
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Walker MC</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2021 Oct 26;97(17):817-831.
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Epub 2021 Sep 7
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doi: 10.1212/WNL.0000000000012744.
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<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/31917082">Influence of epilepsy surgery on developmental outcomes in children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Braun KPJ</span><br />
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2020 Jan;24:40-42.
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<span class="bold">PMID: </span><a href="/pubmed/31917082" target="_blank">31917082</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27372845">Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bikson M,
|
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Grossman P,
|
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Thomas C,
|
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Zannou AL,
|
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Jiang J,
|
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Adnan T,
|
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Mourdoukoutas AP,
|
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Kronberg G,
|
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Truong D,
|
||
Boggio P,
|
||
Brunoni AR,
|
||
Charvet L,
|
||
Fregni F,
|
||
Fritsch B,
|
||
Gillick B,
|
||
Hamilton RH,
|
||
Hampstead BM,
|
||
Jankord R,
|
||
Kirton A,
|
||
Knotkova H,
|
||
Liebetanz D,
|
||
Liu A,
|
||
Loo C,
|
||
Nitsche MA,
|
||
Reis J,
|
||
Richardson JD,
|
||
Rotenberg A,
|
||
Turkeltaub PE,
|
||
Woods AJ</span><br />
|
||
<span class="medgenPMjournal">Brain Stimul</span>
|
||
2016 Sep-Oct;9(5):641-661.
|
||
Epub 2016 Jun 15
|
||
doi: 10.1016/j.brs.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27372845" target="_blank">27372845</a><a href="/pmc/articles/PMC5007190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12667106">Pharmacotherapy of paediatric epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergin AM</span><br />
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<span class="medgenPMjournal">Expert Opin Pharmacother</span>
|
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2003 Apr;4(4):421-31.
|
||
doi: 10.1517/14656566.4.4.421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12667106" target="_blank">12667106</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2040%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 (158)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37750463">Dravet syndrome: A systematic literature review of the illness burden.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
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Lagae L,
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Wilmshurst JM,
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Brunklaus A,
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Striano P,
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Rosenow F,
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Schubert-Bast S</span><br />
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<span class="medgenPMjournal">Epilepsia Open</span>
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2023 Dec;8(4):1256-1270.
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Epub 2023 Oct 11
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<span class="bold">PMID: </span><a href="/pubmed/37750463" target="_blank">37750463</a><a href="/pmc/articles/PMC10690674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35190816">Assessing the landscape of STXBP1-related disorders in 534 individuals.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
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Parthasarathy S,
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Ruggiero SM,
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Balagura G,
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Fitch E,
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Helbig K,
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Gan J,
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Ganesan S,
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Kaufman MC,
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Ellis CA,
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Lewis-Smith D,
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Galer P,
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Cunningham K,
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O'Brien M,
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Cosico M,
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Baker K,
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Darling A,
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Veiga de Goes F,
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El Achkar CM,
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Doering JH,
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Furia F,
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García-Cazorla Á,
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Gardella E,
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Geertjens L,
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Klein C,
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Kolesnik-Taylor A,
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Lammertse H,
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Lee J,
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Mackie A,
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Misra-Isrie M,
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Olson H,
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Sexton E,
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Sheidley B,
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Smith L,
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Sotero L,
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Stamberger H,
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Syrbe S,
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Thalwitzer KM,
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van Berkel A,
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van Haelst M,
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Yuskaitis C,
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Weckhuysen S,
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Prosser B,
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Son Rigby C,
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Demarest S,
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Pierce S,
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Zhang Y,
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Møller RS,
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Bruining H,
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Poduri A,
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Zara F,
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Verhage M,
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Striano P,
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Helbig I</span><br />
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<span class="medgenPMjournal">Brain</span>
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2022 Jun 3;145(5):1668-1683.
|
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doi: 10.1093/brain/awab327.
|
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<span class="bold">PMID: </span><a href="/pubmed/35190816" target="_blank">35190816</a><a href="/pmc/articles/PMC9166568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34493617">Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Balestrini S,
|
||
Wirrell EC,
|
||
Walker MC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Oct 26;97(17):817-831.
|
||
Epub 2021 Sep 7
|
||
doi: 10.1212/WNL.0000000000012744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34493617" target="_blank">34493617</a><a href="/pmc/articles/PMC10336826" 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 class="nl"><a target="_blank" href="/pubmed/27372845">Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bikson M,
|
||
Grossman P,
|
||
Thomas C,
|
||
Zannou AL,
|
||
Jiang J,
|
||
Adnan T,
|
||
Mourdoukoutas AP,
|
||
Kronberg G,
|
||
Truong D,
|
||
Boggio P,
|
||
Brunoni AR,
|
||
Charvet L,
|
||
Fregni F,
|
||
Fritsch B,
|
||
Gillick B,
|
||
Hamilton RH,
|
||
Hampstead BM,
|
||
Jankord R,
|
||
Kirton A,
|
||
Knotkova H,
|
||
Liebetanz D,
|
||
Liu A,
|
||
Loo C,
|
||
Nitsche MA,
|
||
Reis J,
|
||
Richardson JD,
|
||
Rotenberg A,
|
||
Turkeltaub PE,
|
||
Woods AJ</span><br />
|
||
<span class="medgenPMjournal">Brain Stimul</span>
|
||
2016 Sep-Oct;9(5):641-661.
|
||
Epub 2016 Jun 15
|
||
doi: 10.1016/j.brs.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27372845" target="_blank">27372845</a><a href="/pmc/articles/PMC5007190" 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%2040%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 (153)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39093319">Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gras M,
|
||
Bearden D,
|
||
West J,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Aug;9(4):1176-1191.
|
||
Epub 2024 Jun 22
|
||
doi: 10.1002/epi4.12975.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39093319" target="_blank">39093319</a><a href="/pmc/articles/PMC11296097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36693334">Peri-Insular Hemispherotomy: A Systematic Review and Institutional Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates CF,
|
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Malone S,
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Riney K,
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Shah U,
|
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Wood MJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2023;58(1):18-28.
|
||
Epub 2023 Jan 13
|
||
doi: 10.1159/000529098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36693334" target="_blank">36693334</a><a href="/pmc/articles/PMC10064387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36270898">Surgical Treatments for Epilepsies in Children Aged 1-36 Months: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsou AY,
|
||
Kessler SK,
|
||
Wu M,
|
||
Abend NS,
|
||
Massey SL,
|
||
Treadwell JR</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jan 3;100(1):e1-e15.
|
||
Epub 2022 Oct 21
|
||
doi: 10.1212/WNL.0000000000201012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36270898" target="_blank">36270898</a><a href="/pmc/articles/PMC9827129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30132269">Efficacy and Safety of Adjunctive Cannabidiol in Patients with Lennox-Gastaut Syndrome: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Brigo F,
|
||
Cagnetti C,
|
||
Trinka E,
|
||
Silvestrini M</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2018 Oct;32(10):905-916.
|
||
doi: 10.1007/s40263-018-0558-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30132269" target="_blank">30132269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28729328">Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veroniki AA,
|
||
Rios P,
|
||
Cogo E,
|
||
Straus SE,
|
||
Finkelstein Y,
|
||
Kealey R,
|
||
Reynen E,
|
||
Soobiah C,
|
||
Thavorn K,
|
||
Hutton B,
|
||
Hemmelgarn BR,
|
||
Yazdi F,
|
||
D'Souza J,
|
||
MacDonald H,
|
||
Tricco AC</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2017 Jul 20;7(7):e017248.
|
||
doi: 10.1136/bmjopen-2017-017248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28729328" target="_blank">28729328</a><a href="/pmc/articles/PMC5642793" 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%2040%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 (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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</div>
|
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<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310737%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310737%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310737%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310737%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617065" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%2040" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2040)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617064" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=60558[geneid]" target="_blank">View GUF1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617065" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
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|
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<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy,%2040" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=934704" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=934704" ref="log$=recordlinks">Gene</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4310737[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca4b5a68b6b5afcb967ba">Developmental and epileptic encephalopathy, 40</a>
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