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<meta name="keywords" content="C5231486, cdcbm15, cortical dysplasia, complex, with other brain malformations 15, disease or syndrome, pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, pamddfs, tubgcp2, 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="Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (Concept Id: C5231486)
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<!--
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||
UID=1684879
|
||
ConceptID=C5231486
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures<span class="h1sub">(PAMDDFS; CDCBM15)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684879</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:">C5231486</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15</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="TUBGCP2 - ID: 10844 - NCBI Gene" href="/gene/10844" class="medgenPMinfo">TUBGCP2</a> (10q26.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032893" target="_blank">MONDO:0032893</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618737" target="_blank">618737</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_343309"><div><strong>Protruding ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343309</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.">C1855285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343309">Feature record</a> | <a href="/medgen?term=%22Protruding%20ear%22%5BClinical%20Features%5D%20OR%20343309%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_120579"><div><strong>Macrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120579</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.">C0266483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120579">Feature record</a> | <a href="/medgen?term=%22Macrogyria%22%5BClinical%20Features%5D%20OR%20120579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_318876"><div><strong>Subependymal cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318876</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.">C1833431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318876">Feature record</a> | <a href="/medgen?term=%22Subependymal%20cysts%22%5BClinical%20Features%5D%20OR%20318876%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336288"><div><strong>Subcortical band heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336288</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.">C1848201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.\n\nThe abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336288">Feature record</a> | <a href="/medgen?term=%22Subcortical%20band%20heterotopia%22%5BClinical%20Features%5D%20OR%20336288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_382164"><div><strong>Brisk reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382164</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.">C2673700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382164">Feature record</a> | <a href="/medgen?term=%22Brisk%20reflexes%22%5BClinical%20Features%5D%20OR%20382164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869073"><div><strong>Interictal epileptiform activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869073</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4023491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869073">Feature record</a> | <a href="/medgen?term=%22Interictal%20epileptiform%20activity%22%5BClinical%20Features%5D%20OR%20869073%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66804"><div><strong>Hypoplasia of the maxilla</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66804</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.">C0240310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66804">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20maxilla%22%5BClinical%20Features%5D%20OR%2066804%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340542"><div><strong>Progressive microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340542</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.">C1850456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340542">Feature record</a> | <a href="/medgen?term=%22Progressive%20microcephaly%22%5BClinical%20Features%5D%20OR%20340542%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_66013"><div><strong>Bulbous nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66013</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.">C0240543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased volume and globular shape of the anteroinferior aspect of the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66013">Feature record</a> | <a href="/medgen?term=%22Bulbous%20nose%22%5BClinical%20Features%5D%20OR%2066013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_585638"><div><strong>Widely-spaced incisors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>585638</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.">C0399545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/585638">Feature record</a> | <a href="/medgen?term=%22Widely-spaced%20incisors%22%5BClinical%20Features%5D%20OR%20585638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_222980"><div><strong>Smooth philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>222980</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.">C1142533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/222980">Feature record</a> | <a href="/medgen?term=%22Smooth%20philtrum%22%5BClinical%20Features%5D%20OR%20222980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326956"><div><strong>Narrow forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326956</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.">C1839758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326956">Feature record</a> | <a href="/medgen?term=%22Narrow%20forehead%22%5BClinical%20Features%5D%20OR%20326956%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377914"><div><strong>Thick eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377914</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.">C1853487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased density/number and/or increased diameter of eyebrow hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377914">Feature record</a> | <a href="/medgen?term=%22Thick%20eyebrow%22%5BClinical%20Features%5D%20OR%20377914%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346640"><div><strong>Sloping forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346640</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.">C1857679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346640">Feature record</a> | <a href="/medgen?term=%22Sloping%20forehead%22%5BClinical%20Features%5D%20OR%20346640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</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.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98132"><div><strong>Synophrys</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98132</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.">C0431447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meeting of the medial eyebrows in the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98132">Feature record</a> | <a href="/medgen?term=%22Synophrys%22%5BClinical%20Features%5D%20OR%2098132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_890568"><div><strong>Cerebral visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>890568</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.">C4048268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/890568">Feature record</a> | <a href="/medgen?term=%22Cerebral%20visual%20impairment%22%5BClinical%20Features%5D%20OR%20890568%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_66013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbous nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sloping forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_222980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smooth philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_585638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Widely-spaced incisors</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_890568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral visual impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</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_98132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synophrys</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_66804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the maxilla</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_382164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brisk reflexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interictal epileptiform activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrogyria</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_336288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcortical band heterotopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subependymal cysts</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_343309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protruding ear</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37921621">ACVIM Consensus Statement on the management of status epilepticus and cluster seizures in dogs and cats.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charalambous M,
|
||
Muñana K,
|
||
Patterson EE,
|
||
Platt SR,
|
||
Volk HA</span><br />
|
||
<span class="medgenPMjournal">J Vet Intern Med</span>
|
||
2024 Jan-Feb;38(1):19-40.
|
||
Epub 2023 Nov 3
|
||
doi: 10.1111/jvim.16928.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37921621" target="_blank">37921621</a><a href="/pmc/articles/PMC10800221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37655702">Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pressler RM,
|
||
Abend NS,
|
||
Auvin S,
|
||
Boylan G,
|
||
Brigo F,
|
||
Cilio MR,
|
||
De Vries LS,
|
||
Elia M,
|
||
Espeche A,
|
||
Hahn CD,
|
||
Inder T,
|
||
Jette N,
|
||
Kakooza-Mwesige A,
|
||
Mader S,
|
||
Mizrahi EM,
|
||
Moshé SL,
|
||
Nagarajan L,
|
||
Noyman I,
|
||
Nunes ML,
|
||
Samia P,
|
||
Shany E,
|
||
Shellhaas RA,
|
||
Subota A,
|
||
Triki CC,
|
||
Tsuchida T,
|
||
Vinayan KP,
|
||
Wilmshurst JM,
|
||
Yozawitz EG,
|
||
Hartmann H</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Oct;64(10):2550-2570.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1111/epi.17745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37655702" target="_blank">37655702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35503712">ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuberi SM,
|
||
Wirrell E,
|
||
Yozawitz E,
|
||
Wilmshurst JM,
|
||
Specchio N,
|
||
Riney K,
|
||
Pressler R,
|
||
Auvin S,
|
||
Samia P,
|
||
Hirsch E,
|
||
Galicchio S,
|
||
Triki C,
|
||
Snead OC,
|
||
Wiebe S,
|
||
Cross JH,
|
||
Tinuper P,
|
||
Scheffer IE,
|
||
Perucca E,
|
||
Moshé SL,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Jun;63(6):1349-1397.
|
||
Epub 2022 May 3
|
||
doi: 10.1111/epi.17239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35503712" target="_blank">35503712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pachygyria%2C%20microcephaly%2C%20developmental%20delay%2C%20and%20dysmorphic%20facies%2C%20with%20or%20without%20seizures)%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 (6877)</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/32143234">Neonatal Seizures: Diagnosis, Etiologies, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziobro J,
|
||
Shellhaas RA</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2020 Apr;40(2):246-256.
|
||
Epub 2020 Mar 6
|
||
doi: 10.1055/s-0040-1702943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32143234" target="_blank">32143234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31324320">Seizure classification, etiology, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shellhaas RA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2019;162:347-361.
|
||
doi: 10.1016/B978-0-444-64029-1.00017-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31324320" target="_blank">31324320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29871784">Seizure cluster: Definition, prevalence, consequences, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jafarpour S,
|
||
Hirsch LJ,
|
||
Gaínza-Lein M,
|
||
Kellinghaus C,
|
||
Detyniecki K</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 May;68:9-15.
|
||
Epub 2018 May 21
|
||
doi: 10.1016/j.seizure.2018.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29871784" target="_blank">29871784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28027373">New-Onset Seizure in Adults and Adolescents: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavvala JR,
|
||
Schuele SU</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2016 Dec 27;316(24):2657-2668.
|
||
doi: 10.1001/jama.2016.18625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28027373" target="_blank">28027373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24295158">Febrile seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson JL,
|
||
Carapetian SA,
|
||
Hageman JR,
|
||
Kelley KR</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2013 Dec;42(12):249-54.
|
||
doi: 10.3928/00904481-20131122-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24295158" target="_blank">24295158</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachygyria%2C%20microcephaly%2C%20developmental%20delay%2C%20and%20dysmorphic%20facies%2C%20with%20or%20without%20seizures%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (45297)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35393959">Evaluation of First Seizure and Newly Diagnosed Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirrell E</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Apr 1;28(2):230-260.
|
||
doi: 10.1212/CON.0000000000001074.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35393959" target="_blank">35393959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34789447">Acute symptomatic seizures: an educational, evidence-based review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mauritz M,
|
||
Hirsch LJ,
|
||
Camfield P,
|
||
Chin R,
|
||
Nardone R,
|
||
Lattanzi S,
|
||
Trinka E</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2022 Feb 1;24(1):26-49.
|
||
doi: 10.1684/epd.2021.1376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34789447" target="_blank">34789447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32143234">Neonatal Seizures: Diagnosis, Etiologies, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziobro J,
|
||
Shellhaas RA</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2020 Apr;40(2):246-256.
|
||
Epub 2020 Mar 6
|
||
doi: 10.1055/s-0040-1702943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32143234" target="_blank">32143234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31324320">Seizure classification, etiology, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shellhaas RA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2019;162:347-361.
|
||
doi: 10.1016/B978-0-444-64029-1.00017-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31324320" target="_blank">31324320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29747735">Seizures in Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bollig KJ,
|
||
Jackson DL</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
|
||
2018 Jun;45(2):349-367.
|
||
doi: 10.1016/j.ogc.2018.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29747735" target="_blank">29747735</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachygyria%2C%20microcephaly%2C%20developmental%20delay%2C%20and%20dysmorphic%20facies%2C%20with%20or%20without%20seizures%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (47000)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35144527">Ketogenic diet in pediatric seizures: a randomized controlled trial review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pizzo F,
|
||
Collotta AD,
|
||
Di Nora A,
|
||
Costanza G,
|
||
Ruggieri M,
|
||
Falsaperla R</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2022 Feb;22(2):169-177.
|
||
Epub 2022 Feb 25
|
||
doi: 10.1080/14737175.2022.2030220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35144527" target="_blank">35144527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34618762">Seizures, Status Epilepticus, and Continuous EEG in the Intensive Care Unit.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenthal ES</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2021 Oct 1;27(5):1321-1343.
|
||
doi: 10.1212/CON.0000000000001012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34618762" target="_blank">34618762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33559102">Cannabidiol in the Treatment of Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">von Wrede R,
|
||
Helmstaedter C,
|
||
Surges R</span><br />
|
||
<span class="medgenPMjournal">Clin Drug Investig</span>
|
||
2021 Mar;41(3):211-220.
|
||
Epub 2021 Feb 9
|
||
doi: 10.1007/s40261-021-01003-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33559102" target="_blank">33559102</a><a href="/pmc/articles/PMC7946683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33180985">Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kotulska K,
|
||
Kwiatkowski DJ,
|
||
Curatolo P,
|
||
Weschke B,
|
||
Riney K,
|
||
Jansen F,
|
||
Feucht M,
|
||
Krsek P,
|
||
Nabbout R,
|
||
Jansen AC,
|
||
Wojdan K,
|
||
Sijko K,
|
||
Głowacka-Walas J,
|
||
Borkowska J,
|
||
Sadowski K,
|
||
Domańska-Pakieła D,
|
||
Moavero R,
|
||
Hertzberg C,
|
||
Hulshof H,
|
||
Scholl T,
|
||
Benova B,
|
||
Aronica E,
|
||
de Ridder J,
|
||
Lagae L,
|
||
Jóźwiak S;
|
||
EPISTOP Investigators</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2021 Feb;89(2):304-314.
|
||
Epub 2020 Nov 27
|
||
doi: 10.1002/ana.25956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33180985" target="_blank">33180985</a><a href="/pmc/articles/PMC7898885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26416804">Mindfulness therapy and seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro SD,
|
||
Karceski S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2015 Sep 29;85(13):e101-3.
|
||
doi: 10.1212/WNL.0000000000002048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26416804" target="_blank">26416804</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachygyria%2C%20microcephaly%2C%20developmental%20delay%2C%20and%20dysmorphic%20facies%2C%20with%20or%20without%20seizures%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (39715)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38008901">Incidence and risk factors of post-stroke seizures and epilepsy: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nandan A,
|
||
Zhou YM,
|
||
Demoe L,
|
||
Waheed A,
|
||
Jain P,
|
||
Widjaja E</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Nov;51(11):3000605231213231.
|
||
doi: 10.1177/03000605231213231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38008901" target="_blank">38008901</a><a href="/pmc/articles/PMC10683575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24295158">Febrile seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson JL,
|
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Carapetian SA,
|
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Hageman JR,
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Kelley KR</span><br />
|
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<span class="medgenPMjournal">Pediatr Ann</span>
|
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2013 Dec;42(12):249-54.
|
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<span class="bold">PMID: </span><a href="/pubmed/24295158" target="_blank">24295158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23688690">Antidepressant overdose-induced seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Judge BS,
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Rentmeester LL</span><br />
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<span class="medgenPMjournal">Psychiatr Clin North Am</span>
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2013 Jun;36(2):245-60.
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doi: 10.1016/j.psc.2013.02.004.
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<span class="bold">PMID: </span><a href="/pubmed/23688690" target="_blank">23688690</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16574525">Seizures in children.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Friedman MJ,
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Sharieff GQ</span><br />
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<span class="medgenPMjournal">Pediatr Clin North Am</span>
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2006 Apr;53(2):257-77.
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<span class="bold">PMID: </span><a href="/pubmed/16574525" target="_blank">16574525</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10830320">Epidemiology of temporal lobe epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wiebe S</span><br />
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<span class="medgenPMjournal">Can J Neurol Sci</span>
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2000 May;27 Suppl 1:S6-10; discussion S20-1.
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<span class="bold">PMID: </span><a href="/pubmed/10830320" target="_blank">10830320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachygyria%2C%20microcephaly%2C%20developmental%20delay%2C%20and%20dysmorphic%20facies%2C%20with%20or%20without%20seizures%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (27534)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37783038">Can heart rate variability identify a high-risk state of upcoming seizure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousyn L,
|
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Dono F,
|
||
Navarro V,
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Chavez M</span><br />
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<span class="medgenPMjournal">Epilepsy Res</span>
|
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2023 Nov;197:107232.
|
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Epub 2023 Sep 22
|
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doi: 10.1016/j.eplepsyres.2023.107232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37783038" target="_blank">37783038</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32049738">Chance and risk in epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baud MO,
|
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Proix T,
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||
Rao VR,
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Schindler K</span><br />
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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||
2020 Apr;33(2):163-172.
|
||
doi: 10.1097/WCO.0000000000000798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32049738" target="_blank">32049738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30317059">Automated seizure prediction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acharya UR,
|
||
Hagiwara Y,
|
||
Adeli H</span><br />
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||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2018 Nov;88:251-261.
|
||
Epub 2018 Oct 11
|
||
doi: 10.1016/j.yebeh.2018.09.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30317059" target="_blank">30317059</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28532713">Electroencephalography after a single unprovoked seizure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debicki DB</span><br />
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||
<span class="medgenPMjournal">Seizure</span>
|
||
2017 Jul;49:69-73.
|
||
Epub 2017 Apr 25
|
||
doi: 10.1016/j.seizure.2017.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28532713" target="_blank">28532713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22380858">Prediction of neuropsychological outcome after resection of temporal and extratemporal seizure foci.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Dulay MF,
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Busch RM</span><br />
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<span class="medgenPMjournal">Neurosurg Focus</span>
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2012 Mar;32(3):E4.
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doi: 10.3171/2012.1.FOCUS11340.
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<span class="bold">PMID: </span><a href="/pubmed/22380858" target="_blank">22380858</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachygyria%2C%20microcephaly%2C%20developmental%20delay%2C%20and%20dysmorphic%20facies%2C%20with%20or%20without%20seizures%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29009)</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/38316735">Guidelines for Seizure Prophylaxis in Adults Hospitalized with Moderate-Severe Traumatic Brain Injury: A Clinical Practice Guideline for Health Care Professionals from the Neurocritical Care Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frontera JA,
|
||
Gilmore EJ,
|
||
Johnson EL,
|
||
Olson D,
|
||
Rayi A,
|
||
Tesoro E,
|
||
Ullman J,
|
||
Yuan Y,
|
||
Zafar SF,
|
||
Rowe S</span><br />
|
||
<span class="medgenPMjournal">Neurocrit Care</span>
|
||
2024 Jun;40(3):819-844.
|
||
Epub 2024 Feb 5
|
||
doi: 10.1007/s12028-023-01907-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38316735" target="_blank">38316735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37655702">Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pressler RM,
|
||
Abend NS,
|
||
Auvin S,
|
||
Boylan G,
|
||
Brigo F,
|
||
Cilio MR,
|
||
De Vries LS,
|
||
Elia M,
|
||
Espeche A,
|
||
Hahn CD,
|
||
Inder T,
|
||
Jette N,
|
||
Kakooza-Mwesige A,
|
||
Mader S,
|
||
Mizrahi EM,
|
||
Moshé SL,
|
||
Nagarajan L,
|
||
Noyman I,
|
||
Nunes ML,
|
||
Samia P,
|
||
Shany E,
|
||
Shellhaas RA,
|
||
Subota A,
|
||
Triki CC,
|
||
Tsuchida T,
|
||
Vinayan KP,
|
||
Wilmshurst JM,
|
||
Yozawitz EG,
|
||
Hartmann H</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Oct;64(10):2550-2570.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1111/epi.17745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37655702" target="_blank">37655702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29871784">Seizure cluster: Definition, prevalence, consequences, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jafarpour S,
|
||
Hirsch LJ,
|
||
Gaínza-Lein M,
|
||
Kellinghaus C,
|
||
Detyniecki K</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 May;68:9-15.
|
||
Epub 2018 May 21
|
||
doi: 10.1016/j.seizure.2018.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29871784" target="_blank">29871784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28850959">Epileptic Seizures Under Antidepressive Drug Treatment: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinert T,
|
||
Fröscher W</span><br />
|
||
<span class="medgenPMjournal">Pharmacopsychiatry</span>
|
||
2018 Jul;51(4):121-135.
|
||
Epub 2017 Aug 29
|
||
doi: 10.1055/s-0043-117962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28850959" target="_blank">28850959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19732133">Recommendation for a definition of acute symptomatic seizure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beghi E,
|
||
Carpio A,
|
||
Forsgren L,
|
||
Hesdorffer DC,
|
||
Malmgren K,
|
||
Sander JW,
|
||
Tomson T,
|
||
Hauser WA</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2010 Apr;51(4):671-5.
|
||
Epub 2009 Sep 3
|
||
doi: 10.1111/j.1528-1167.2009.02285.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19732133" target="_blank">19732133</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachygyria%2C%20microcephaly%2C%20developmental%20delay%2C%20and%20dysmorphic%20facies%2C%20with%20or%20without%20seizures%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 (2247)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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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=C5231486%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C5231486%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li><a href="/gtr/tests?term=C5231486%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5231486%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617817" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10844[geneid]" target="_blank">View TUBGCP2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618737" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a href="/pubmed/clinical?term=Pachygyria,%20microcephaly,%20developmental%20delay,%20and%20dysmorphic%20facies,%20with%20or%20without%20seizures" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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