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<meta name="keywords" content="C2751855, agc1 deficiency, aspartate-glutamate carrier 1 deficiency, dee39, developmental and epileptic encephalopathy 39, developmental and epileptic encephalopathy 39 with leukodystrophy, developmental and epileptic encephalopathy, 39, disease or syndrome, early infantile epileptic encephalopathy caused by mutation in slc25a12, eiee39, epileptic encephalopathy with global cerebral demyelination, epileptic encephalopathy, early infantile, 39, hypomyelination, global cerebral, mitochondrial aspartate-glutamate carrier 1 deficiency, slc25a12, slc25a12 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-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. 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=414492
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ConceptID=C2751855
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 39<span class="h1sub">(DEE39)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414492</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:">C2751855</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>DEE39; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY; Hypomyelination, global cerebral</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SLC25A12 - ID: 8604 - NCBI Gene" href="/gene/8604" class="medgenPMinfo">SLC25A12</a> (2q31.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013056" target="_blank">MONDO:0013056</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612949" target="_blank">612949</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353217">ORPHA353217</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. 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>
|
||
|
||
<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_96108"><div><strong>Single transverse palmar crease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96108</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.">C0424731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96108">Feature record</a> | <a href="/medgen?term=%22Single%20transverse%20palmar%20crease%22%5BClinical%20Features%5D%20OR%2096108%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98098"><div><strong>Tapered finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98098</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.">C0426886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The gradual reduction in girth of the finger from proximal to distal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98098">Feature record</a> | <a href="/medgen?term=%22Tapered%20finger%22%5BClinical%20Features%5D%20OR%2098098%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57981"><div><strong>Right ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57981</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.">C0162770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57981">Feature record</a> | <a href="/medgen?term=%22Right%20ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057981%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75603"><div><strong>Jejunal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75603</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.">C0266175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75603">Feature record</a> | <a href="/medgen?term=%22Jejunal%20atresia%22%5BClinical%20Features%5D%20OR%2075603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866825"><div><strong>Darwin tubercle of helix</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866825</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.">C4021179</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small expansion of the helical fold at the junction of the superior and descending portions of the helix.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866825">Feature record</a> | <a href="/medgen?term=%22Darwin%20tubercle%20of%20helix%22%5BClinical%20Features%5D%20OR%20866825%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3232"><div><strong>Febrile seizure (within the age range of 3 months to 6 years)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0009952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3232">Feature record</a> | <a href="/medgen?term=%22Febrile%20seizure%20(within%20the%20age%20range%20of%203%20months%20to%206%20years)%22%5BClinical%20Features%5D%20OR%203232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_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) 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_115963"><div><strong>Generalized-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115963</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.">C0234533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115963">Feature record</a> | <a href="/medgen?term=%22Generalized-onset%20seizure%22%5BClinical%20Features%5D%20OR%20115963%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82855"><div><strong>Tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82855</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82855">Feature record</a> | <a href="/medgen?term=%22Tonic%20seizure%22%5BClinical%20Features%5D%20OR%2082855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_256151"><div><strong>Persistent head lag</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>256151</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.">C1141883</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/256151">Feature record</a> | <a href="/medgen?term=%22Persistent%20head%20lag%22%5BClinical%20Features%5D%20OR%20256151%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_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383084"><div><strong>Cerebral hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383084</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.">C2677328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383084">Feature record</a> | <a href="/medgen?term=%22Cerebral%20hypomyelination%22%5BClinical%20Features%5D%20OR%20383084%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868367"><div><strong>Reduced brain N-acetyl aspartate level by MRS</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868367</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.">C4022761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868367">Feature record</a> | <a href="/medgen?term=%22Reduced%20brain%20N-acetyl%20aspartate%20level%20by%20MRS%22%5BClinical%20Features%5D%20OR%20868367%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870502"><div><strong>Generalized hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870502</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.">C4024949</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870502">Feature record</a> | <a href="/medgen?term=%22Generalized%20hyperreflexia%22%5BClinical%20Features%5D%20OR%20870502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1709275"><div><strong>Febrile status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1709275</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.">C5397673</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1709275">Feature record</a> | <a href="/medgen?term=%22Febrile%20status%20epilepticus%22%5BClinical%20Features%5D%20OR%201709275%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1718874"><div><strong>Delayed ability to roll over</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718874</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5397980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed achievement of the ability to roll front to back and back to front.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718874">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20roll%20over%22%5BClinical%20Features%5D%20OR%201718874%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</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.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322809"><div><strong>Poor head control</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322809</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.">C1836038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322809">Feature record</a> | <a href="/medgen?term=%22Poor%20head%20control%22%5BClinical%20Features%5D%20OR%20322809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332439"><div><strong>Flat occiput</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332439</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.">C1837402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced convexity of the occiput (posterior part of skull).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332439">Feature record</a> | <a href="/medgen?term=%22Flat%20occiput%22%5BClinical%20Features%5D%20OR%20332439%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326544"><div><strong>Severe muscular hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326544</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.">C1839630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326544">Feature record</a> | <a href="/medgen?term=%22Severe%20muscular%20hypotonia%22%5BClinical%20Features%5D%20OR%20326544%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336019"><div><strong>Increased variability in muscle fiber diameter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336019</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.">C1843700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336019">Feature record</a> | <a href="/medgen?term=%22Increased%20variability%20in%20muscle%20fiber%20diameter%22%5BClinical%20Features%5D%20OR%20336019%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_344274"><div><strong>Type 1 muscle fiber predominance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344274</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.">C1854387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344274">Feature record</a> | <a href="/medgen?term=%22Type%201%20muscle%20fiber%20predominance%22%5BClinical%20Features%5D%20OR%20344274%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383046"><div><strong>Primary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383046</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.">C2677180</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 at birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383046">Feature record</a> | <a href="/medgen?term=%22Primary%20microcephaly%22%5BClinical%20Features%5D%20OR%20383046%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75751"><div><strong>Chronic otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75751</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.">C0271441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75751">Feature record</a> | <a href="/medgen?term=%22Chronic%20otitis%20media%22%5BClinical%20Features%5D%20OR%2075751%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332209"><div><strong>Increased circulating lactate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332209</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.">C1836440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332209">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20concentration%22%5BClinical%20Features%5D%20OR%20332209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8484"><div><strong>Drooling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8484</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.">C0013132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habitual flow of saliva out of the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8484">Feature record</a> | <a href="/medgen?term=%22Drooling%22%5BClinical%20Features%5D%20OR%208484%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_278045"><div><strong>Narrow palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>278045</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.">C1398312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/278045">Feature record</a> | <a href="/medgen?term=%22Narrow%20palate%22%5BClinical%20Features%5D%20OR%20278045%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324787"><div><strong>High, narrow palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324787</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.">C1837404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a high and narrow palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324787">Feature record</a> | <a href="/medgen?term=%22High%2C%20narrow%20palate%22%5BClinical%20Features%5D%20OR%20324787%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336480"><div><strong>Oval face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336480</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.">C1849025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A face with a rounded and slightly elongated outline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336480">Feature record</a> | <a href="/medgen?term=%22Oval%20face%22%5BClinical%20Features%5D%20OR%20336480%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333413"><div><strong>Frontal hirsutism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333413</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.">C1839830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive amount of hair growth on forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333413">Feature record</a> | <a href="/medgen?term=%22Frontal%20hirsutism%22%5BClinical%20Features%5D%20OR%20333413%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336538"><div><strong>Generalized hirsutism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336538</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.">C1849211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased hair growth over much of the entire body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336538">Feature record</a> | <a href="/medgen?term=%22Generalized%20hirsutism%22%5BClinical%20Features%5D%20OR%20336538%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drooling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High, narrow palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_278045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oval face</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Single transverse palmar crease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tapered finger</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right ventricular hypertrophy</a></span></li></ul></li><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_75603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jejunal atresia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic otitis media</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal hirsutism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hirsutism</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_332439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat occiput</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_336019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased variability in muscle fiber diameter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor head control</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe muscular hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 1 muscle fiber predominance</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_383084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral hypomyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1718874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to roll over</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1709275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile status epilepticus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized-onset seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_256151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent head lag</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced brain N-acetyl aspartate level by MRS</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_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_82855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic seizure</a></span></li></ul></li><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_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Darwin tubercle of helix</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751855[DISCUI]&test_type=Clinical" ref="ncbi_uid=414492">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414492" target="_blank" href="/omim/603667">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414492" ref="ncbi_uid=414492">V</a></span></span><span class="TLline">Developmental and epileptic encephalopathy, 39</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842923" ref="tree=MeSH" title="MedGen record for Mitochondrial substrate carrier disorder">Mitochondrial substrate carrier disorder</a></span><ul><li><span class="matched_ds">Developmental and epileptic encephalopathy, 39</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=22119&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Developmental and epileptic encephalopathy, 39</span> in Orphanet.</div></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/38881224">Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lasa-Aranzasti A,
|
||
Larasati YA,
|
||
da Silva Cardoso J,
|
||
Solis GP,
|
||
Koval A,
|
||
Cazurro-Gutiérrez A,
|
||
Ortigoza-Escobar JD,
|
||
Miranda MC,
|
||
De la Casa-Fages B,
|
||
Moreno-Galdó A,
|
||
Tizzano EF,
|
||
Gómez-Andrés D,
|
||
Verdura E,
|
||
Katanaev VL,
|
||
Pérez-Dueñas B;
|
||
Study Group of GNAO1 patients from Spain</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2024 Sep;39(9):1578-1591.
|
||
Epub 2024 Jun 16
|
||
doi: 10.1002/mds.29881.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38881224" target="_blank">38881224</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/34215386">Epilepsy: Epileptic Syndromes and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyayan A,
|
||
Diaz-Medina G</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):779-795.
|
||
doi: 10.1016/j.ncl.2021.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215386" target="_blank">34215386</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2039)%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 (18)</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/34215388">Inflammatory Diseases of the Central Nervous System.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malani Shukla N,
|
||
Lotze TE,
|
||
Muscal E</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):811-828.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1016/j.ncl.2021.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215388" target="_blank">34215388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32702652">Head circumferences of patients with Dravet syndrome show growth slowdown.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lo Barco T,
|
||
Chemaly N,
|
||
Teng T,
|
||
Darra F,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Oct;111:107157.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1016/j.yebeh.2020.107157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32702652" target="_blank">32702652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31495662">Long-Term Outcome After Bilateral Perinatal Arterial Ischemic Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mineyko A,
|
||
Kirton A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Dec;101:39-42.
|
||
Epub 2019 Aug 2
|
||
doi: 10.1016/j.pediatrneurol.2019.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31495662" target="_blank">31495662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29897170">Further delineation of Malan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Priolo M,
|
||
Schanze D,
|
||
Tatton-Brown K,
|
||
Mulder PA,
|
||
Tenorio J,
|
||
Kooblall K,
|
||
Acero IH,
|
||
Alkuraya FS,
|
||
Arias P,
|
||
Bernardini L,
|
||
Bijlsma EK,
|
||
Cole T,
|
||
Coubes C,
|
||
Dapia I,
|
||
Davies S,
|
||
Di Donato N,
|
||
Elcioglu NH,
|
||
Fahrner JA,
|
||
Foster A,
|
||
González NG,
|
||
Huber I,
|
||
Iascone M,
|
||
Kaiser AS,
|
||
Kamath A,
|
||
Liebelt J,
|
||
Lynch SA,
|
||
Maas SM,
|
||
Mammì C,
|
||
Mathijssen IB,
|
||
McKee S,
|
||
Menke LA,
|
||
Mirzaa GM,
|
||
Montgomery T,
|
||
Neubauer D,
|
||
Neumann TE,
|
||
Pintomalli L,
|
||
Pisanti MA,
|
||
Plomp AS,
|
||
Price S,
|
||
Salter C,
|
||
Santos-Simarro F,
|
||
Sarda P,
|
||
Segovia M,
|
||
Shaw-Smith C,
|
||
Smithson S,
|
||
Suri M,
|
||
Valdez RM,
|
||
Van Haeringen A,
|
||
Van Hagen JM,
|
||
Zollino M,
|
||
Lapunzina P,
|
||
Thakker RV,
|
||
Zenker M,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2018 Sep;39(9):1226-1237.
|
||
Epub 2018 Jun 25
|
||
doi: 10.1002/humu.23563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29897170" target="_blank">29897170</a><a href="/pmc/articles/PMC6175110" 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%2039%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 (203)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215388">Inflammatory Diseases of the Central Nervous System.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malani Shukla N,
|
||
Lotze TE,
|
||
Muscal E</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):811-828.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1016/j.ncl.2021.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215388" target="_blank">34215388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215386">Epilepsy: Epileptic Syndromes and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyayan A,
|
||
Diaz-Medina G</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):779-795.
|
||
doi: 10.1016/j.ncl.2021.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215386" target="_blank">34215386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215384">Epilepsy Surgery: Monitoring and Novel Surgical Techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seto ES,
|
||
Coorg R</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):723-742.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1016/j.ncl.2021.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215384" target="_blank">34215384</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29897170">Further delineation of Malan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Priolo M,
|
||
Schanze D,
|
||
Tatton-Brown K,
|
||
Mulder PA,
|
||
Tenorio J,
|
||
Kooblall K,
|
||
Acero IH,
|
||
Alkuraya FS,
|
||
Arias P,
|
||
Bernardini L,
|
||
Bijlsma EK,
|
||
Cole T,
|
||
Coubes C,
|
||
Dapia I,
|
||
Davies S,
|
||
Di Donato N,
|
||
Elcioglu NH,
|
||
Fahrner JA,
|
||
Foster A,
|
||
González NG,
|
||
Huber I,
|
||
Iascone M,
|
||
Kaiser AS,
|
||
Kamath A,
|
||
Liebelt J,
|
||
Lynch SA,
|
||
Maas SM,
|
||
Mammì C,
|
||
Mathijssen IB,
|
||
McKee S,
|
||
Menke LA,
|
||
Mirzaa GM,
|
||
Montgomery T,
|
||
Neubauer D,
|
||
Neumann TE,
|
||
Pintomalli L,
|
||
Pisanti MA,
|
||
Plomp AS,
|
||
Price S,
|
||
Salter C,
|
||
Santos-Simarro F,
|
||
Sarda P,
|
||
Segovia M,
|
||
Shaw-Smith C,
|
||
Smithson S,
|
||
Suri M,
|
||
Valdez RM,
|
||
Van Haeringen A,
|
||
Van Hagen JM,
|
||
Zollino M,
|
||
Lapunzina P,
|
||
Thakker RV,
|
||
Zenker M,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2018 Sep;39(9):1226-1237.
|
||
Epub 2018 Jun 25
|
||
doi: 10.1002/humu.23563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29897170" target="_blank">29897170</a><a href="/pmc/articles/PMC6175110" 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%2039%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 (156)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38015929">Delineating clinical and developmental outcomes in STXBP1-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
|
||
Thalwitzer KM,
|
||
McKee J,
|
||
Sullivan KR,
|
||
Brimble E,
|
||
Fitch E,
|
||
Toib J,
|
||
Kaufman MC,
|
||
deCampo D,
|
||
Cunningham K,
|
||
Pierce SR,
|
||
Goss J,
|
||
Rigby CS,
|
||
Syrbe S,
|
||
Boland M,
|
||
Prosser B,
|
||
Fitter N,
|
||
Ruggiero SM,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5182-5197.
|
||
doi: 10.1093/brain/awad287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38015929" target="_blank">38015929</a><a href="/pmc/articles/PMC10689925" 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/34732400">Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schon KR,
|
||
Horvath R,
|
||
Wei W,
|
||
Calabrese C,
|
||
Tucci A,
|
||
Ibañez K,
|
||
Ratnaike T,
|
||
Pitceathly RDS,
|
||
Bugiardini E,
|
||
Quinlivan R,
|
||
Hanna MG,
|
||
Clement E,
|
||
Ashton E,
|
||
Sayer JA,
|
||
Brennan P,
|
||
Josifova D,
|
||
Izatt L,
|
||
Fratter C,
|
||
Nesbitt V,
|
||
Barrett T,
|
||
McMullen DJ,
|
||
Smith A,
|
||
Deshpande C,
|
||
Smithson SF,
|
||
Festenstein R,
|
||
Canham N,
|
||
Caulfield M,
|
||
Houlden H,
|
||
Rahman S,
|
||
Chinnery PF;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Nov 3;375:e066288.
|
||
doi: 10.1136/bmj-2021-066288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34732400" target="_blank">34732400</a><a href="/pmc/articles/PMC8565085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34287833">Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel AD,
|
||
Mazurkiewicz-Bełdzińska M,
|
||
Chin RF,
|
||
Gil-Nagel A,
|
||
Gunning B,
|
||
Halford JJ,
|
||
Mitchell W,
|
||
Scott Perry M,
|
||
Thiele EA,
|
||
Weinstock A,
|
||
Dunayevich E,
|
||
Checketts D,
|
||
Devinsky O</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Sep;62(9):2228-2239.
|
||
Epub 2021 Jul 20
|
||
doi: 10.1111/epi.17000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34287833" target="_blank">34287833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31862249">Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lagae L,
|
||
Sullivan J,
|
||
Knupp K,
|
||
Laux L,
|
||
Polster T,
|
||
Nikanorova M,
|
||
Devinsky O,
|
||
Cross JH,
|
||
Guerrini R,
|
||
Talwar D,
|
||
Miller I,
|
||
Farfel G,
|
||
Galer BS,
|
||
Gammaitoni A,
|
||
Mistry A,
|
||
Morrison G,
|
||
Lock M,
|
||
Agarwal A,
|
||
Lai WW,
|
||
Ceulemans B;
|
||
FAiRE DS Study Group</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2019 Dec 21;394(10216):2243-2254.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1016/S0140-6736(19)32500-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31862249" target="_blank">31862249</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2039%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 (88)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38015929">Delineating clinical and developmental outcomes in STXBP1-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
|
||
Thalwitzer KM,
|
||
McKee J,
|
||
Sullivan KR,
|
||
Brimble E,
|
||
Fitch E,
|
||
Toib J,
|
||
Kaufman MC,
|
||
deCampo D,
|
||
Cunningham K,
|
||
Pierce SR,
|
||
Goss J,
|
||
Rigby CS,
|
||
Syrbe S,
|
||
Boland M,
|
||
Prosser B,
|
||
Fitter N,
|
||
Ruggiero SM,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5182-5197.
|
||
doi: 10.1093/brain/awad287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38015929" target="_blank">38015929</a><a href="/pmc/articles/PMC10689925" 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/34732400">Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schon KR,
|
||
Horvath R,
|
||
Wei W,
|
||
Calabrese C,
|
||
Tucci A,
|
||
Ibañez K,
|
||
Ratnaike T,
|
||
Pitceathly RDS,
|
||
Bugiardini E,
|
||
Quinlivan R,
|
||
Hanna MG,
|
||
Clement E,
|
||
Ashton E,
|
||
Sayer JA,
|
||
Brennan P,
|
||
Josifova D,
|
||
Izatt L,
|
||
Fratter C,
|
||
Nesbitt V,
|
||
Barrett T,
|
||
McMullen DJ,
|
||
Smith A,
|
||
Deshpande C,
|
||
Smithson SF,
|
||
Festenstein R,
|
||
Canham N,
|
||
Caulfield M,
|
||
Houlden H,
|
||
Rahman S,
|
||
Chinnery PF;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Nov 3;375:e066288.
|
||
doi: 10.1136/bmj-2021-066288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34732400" target="_blank">34732400</a><a href="/pmc/articles/PMC8565085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215386">Epilepsy: Epileptic Syndromes and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyayan A,
|
||
Diaz-Medina G</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Aug;39(3):779-795.
|
||
doi: 10.1016/j.ncl.2021.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215386" target="_blank">34215386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31110234">A novel de novo frameshift variant in SETD1B causes epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Den K,
|
||
Kato M,
|
||
Yamaguchi T,
|
||
Miyatake S,
|
||
Takata A,
|
||
Mizuguchi T,
|
||
Miyake N,
|
||
Mitsuhashi S,
|
||
Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2019 Aug;64(8):821-827.
|
||
Epub 2019 May 20
|
||
doi: 10.1038/s10038-019-0617-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31110234" target="_blank">31110234</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2039%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 (106)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38015929">Delineating clinical and developmental outcomes in STXBP1-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
|
||
Thalwitzer KM,
|
||
McKee J,
|
||
Sullivan KR,
|
||
Brimble E,
|
||
Fitch E,
|
||
Toib J,
|
||
Kaufman MC,
|
||
deCampo D,
|
||
Cunningham K,
|
||
Pierce SR,
|
||
Goss J,
|
||
Rigby CS,
|
||
Syrbe S,
|
||
Boland M,
|
||
Prosser B,
|
||
Fitter N,
|
||
Ruggiero SM,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5182-5197.
|
||
doi: 10.1093/brain/awad287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38015929" target="_blank">38015929</a><a href="/pmc/articles/PMC10689925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34287833">Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel AD,
|
||
Mazurkiewicz-Bełdzińska M,
|
||
Chin RF,
|
||
Gil-Nagel A,
|
||
Gunning B,
|
||
Halford JJ,
|
||
Mitchell W,
|
||
Scott Perry M,
|
||
Thiele EA,
|
||
Weinstock A,
|
||
Dunayevich E,
|
||
Checketts D,
|
||
Devinsky O</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Sep;62(9):2228-2239.
|
||
Epub 2021 Jul 20
|
||
doi: 10.1111/epi.17000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34287833" target="_blank">34287833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32702652">Head circumferences of patients with Dravet syndrome show growth slowdown.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lo Barco T,
|
||
Chemaly N,
|
||
Teng T,
|
||
Darra F,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Oct;111:107157.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1016/j.yebeh.2020.107157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32702652" target="_blank">32702652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31175295">Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata A,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Mizuguchi T,
|
||
Mitsuhashi S,
|
||
Takahashi Y,
|
||
Okamoto N,
|
||
Osaka H,
|
||
Nakamura K,
|
||
Tohyama J,
|
||
Haginoya K,
|
||
Takeshita S,
|
||
Kuki I,
|
||
Okanishi T,
|
||
Goto T,
|
||
Sasaki M,
|
||
Sakai Y,
|
||
Miyake N,
|
||
Miyatake S,
|
||
Tsuchida N,
|
||
Iwama K,
|
||
Minase G,
|
||
Sekiguchi F,
|
||
Fujita A,
|
||
Imagawa E,
|
||
Koshimizu E,
|
||
Uchiyama Y,
|
||
Hamanaka K,
|
||
Ohba C,
|
||
Itai T,
|
||
Aoi H,
|
||
Saida K,
|
||
Sakaguchi T,
|
||
Den K,
|
||
Takahashi R,
|
||
Ikeda H,
|
||
Yamaguchi T,
|
||
Tsukamoto K,
|
||
Yoshitomi S,
|
||
Oboshi T,
|
||
Imai K,
|
||
Kimizu T,
|
||
Kobayashi Y,
|
||
Kubota M,
|
||
Kashii H,
|
||
Baba S,
|
||
Iai M,
|
||
Kira R,
|
||
Hara M,
|
||
Ohta M,
|
||
Miyata Y,
|
||
Miyata R,
|
||
Takanashi JI,
|
||
Matsui J,
|
||
Yokochi K,
|
||
Shimono M,
|
||
Amamoto M,
|
||
Takayama R,
|
||
Hirabayashi S,
|
||
Aiba K,
|
||
Matsumoto H,
|
||
Nabatame S,
|
||
Shiihara T,
|
||
Kato M,
|
||
Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Jun 7;10(1):2506.
|
||
doi: 10.1038/s41467-019-10482-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31175295" target="_blank">31175295</a><a href="/pmc/articles/PMC6555845" 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%2039%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 (129)</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/36992563">Epilepsy and cerebral developmental venous anomalies (DVAs): A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Meskine T,
|
||
Li J,
|
||
Reise J,
|
||
Toffa DH</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2023 Apr;25(2):209-217.
|
||
Epub 2023 May 3
|
||
doi: 10.1002/epd2.20020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36992563" target="_blank">36992563</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36219224">Early surgical approaches in pediatric epilepsy - a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frank NA,
|
||
Greuter L,
|
||
Guzman R,
|
||
Soleman J</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2023 Mar;39(3):677-688.
|
||
Epub 2022 Oct 11
|
||
doi: 10.1007/s00381-022-05699-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36219224" target="_blank">36219224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33819772">Language measurement in childhood epilepsy: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bailey K,
|
||
McAdam-Wong D,
|
||
Im-Bolter N</span><br />
|
||
<span class="medgenPMjournal">Brain Lang</span>
|
||
2021 Jun;217:104940.
|
||
Epub 2021 Apr 2
|
||
doi: 10.1016/j.bandl.2021.104940.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33819772" target="_blank">33819772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33605607">A Systematic Review of Seizure-Freedom Rates in Patients With Benign Epilepsy of Childhood With Centrotemporal Spikes Receiving Antiepileptic Drugs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerstl L,
|
||
Willimsky E,
|
||
Rémi C,
|
||
Noachtar S,
|
||
Borggräfe I,
|
||
Tacke M</span><br />
|
||
<span class="medgenPMjournal">Clin Neuropharmacol</span>
|
||
2021 Mar-Apr 01;44(2):39-46.
|
||
doi: 10.1097/WNF.0000000000000435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33605607" target="_blank">33605607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33461030">Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharawat IK,
|
||
Panda PK,
|
||
Kasinathan A,
|
||
Panda P,
|
||
Dawman L,
|
||
Joshi K</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2021 Feb;85:119-126.
|
||
Epub 2021 Jan 11
|
||
doi: 10.1016/j.seizure.2020.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33461030" target="_blank">33461030</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2039%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 (7)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2751855%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
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<li><a href="/gtr/tests?term=C2751855%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
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<li><a href="/gtr/tests?term=C2751855%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2751855%5bDISCUI%5d" target="_blank">See all (35)</a></total></li>
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