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<meta name="keywords" content="C5436732, disease or syndrome, exoc7, nedseba, neurodevelopmental disorder with seizures and brain atrophy, 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="Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by Coulter et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1748227
|
||
ConceptID=C5436732
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with seizures and brain atrophy<span class="h1sub">(NEDSEBA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748227</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:">C5436732</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>NEDSEBA; NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY</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="EXOC7 - ID: 23265 - NCBI Gene" href="/gene/23265" class="medgenPMinfo">EXOC7</a> (17q25.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033658" target="_blank">MONDO:0033658</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619072" target="_blank">619072</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">Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by Coulter et al., 2020). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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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_66821"><div><strong>Congenital vertical talus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66821</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.">C0240912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66821">Feature record</a> | <a href="/medgen?term=%22Congenital%20vertical%20talus%22%5BClinical%20Features%5D%20OR%2066821%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120578"><div><strong>Cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120578</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.">C0266470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120578%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_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_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</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.">C0751495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334226"><div><strong>Hypoplasia of the brainstem</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334226</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.">C1842688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the brainstem.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334226">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20brainstem%22%5BClinical%20Features%5D%20OR%20334226%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_413664"><div><strong>Simplified gyral pattern</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413664</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.">C2749675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413664">Feature record</a> | <a href="/medgen?term=%22Simplified%20gyral%20pattern%22%5BClinical%20Features%5D%20OR%20413664%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868377"><div><strong>Decreased thalamic volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868377</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.">C4022771</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the quantity of space occupied by the thalamus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868377">Feature record</a> | <a href="/medgen?term=%22Decreased%20thalamic%20volume%22%5BClinical%20Features%5D%20OR%20868377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830310"><div><strong>Arthrogryposis multiplex congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830310</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.">C5779613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital contractures in different body areas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830310">Feature record</a> | <a href="/medgen?term=%22Arthrogryposis%20multiplex%20congenita%22%5BClinical%20Features%5D%20OR%201830310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351278"><div><strong>Long philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351278</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.">C1865014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351278">Feature record</a> | <a href="/medgen?term=%22Long%20philtrum%22%5BClinical%20Features%5D%20OR%20351278%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_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long philtrum</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_66821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital vertical talus</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_1830310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</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_120578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased thalamic volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-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_334226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the brainstem</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_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_413664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simplified gyral pattern</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_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</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/38785164">Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sudnawa KK,
|
||
Li W,
|
||
Calamia S,
|
||
Kanner CH,
|
||
Bain JM,
|
||
Abdelhakim AH,
|
||
Geltzeiler A,
|
||
Mebane CM,
|
||
Provenzano FA,
|
||
Sands TT,
|
||
Fee RJ,
|
||
Montes J,
|
||
Shen Y,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Aug;26(8):101169.
|
||
Epub 2024 May 21
|
||
doi: 10.1016/j.gim.2024.101169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38785164" target="_blank">38785164</a><a href="/pmc/articles/PMC11298291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35322404">El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almannai M,
|
||
Marafi D,
|
||
Abdel-Salam GMH,
|
||
Zaki MS,
|
||
Duan R,
|
||
Calame D,
|
||
Herman I,
|
||
Levesque F,
|
||
Elbendary HM,
|
||
Hegazy I,
|
||
Chung WK,
|
||
Kavus H,
|
||
Saeidi K,
|
||
Maroofian R,
|
||
AlHashim A,
|
||
Al-Otaibi A,
|
||
Al Madhi A,
|
||
Abou Al-Seood HM,
|
||
Alasmari A,
|
||
Houlden H,
|
||
Gleeson JG,
|
||
Hunter JV,
|
||
Posey JE,
|
||
Lupski JR,
|
||
El-Hattab AW</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 May;101(5-6):530-540.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1111/cge.14132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35322404" target="_blank">35322404</a><a href="/pmc/articles/PMC9359317" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32275123">Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rech ME,
|
||
McCarthy JM,
|
||
Chen CA,
|
||
Edmond JC,
|
||
Shah VS,
|
||
Bosch DGM,
|
||
Berry GT,
|
||
Williams L,
|
||
Madan-Khetarpal S,
|
||
Niyazov D,
|
||
Shaw-Smith C,
|
||
Kovar EM,
|
||
Lupo PJ,
|
||
Schaaf CP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Jun;182(6):1426-1437.
|
||
Epub 2020 Apr 10
|
||
doi: 10.1002/ajmg.a.61580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32275123" target="_blank">32275123</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20atrophy)%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 (5)</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/38785164">Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sudnawa KK,
|
||
Li W,
|
||
Calamia S,
|
||
Kanner CH,
|
||
Bain JM,
|
||
Abdelhakim AH,
|
||
Geltzeiler A,
|
||
Mebane CM,
|
||
Provenzano FA,
|
||
Sands TT,
|
||
Fee RJ,
|
||
Montes J,
|
||
Shen Y,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Aug;26(8):101169.
|
||
Epub 2024 May 21
|
||
doi: 10.1016/j.gim.2024.101169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38785164" target="_blank">38785164</a><a href="/pmc/articles/PMC11298291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
|
||
Sudhakar S,
|
||
Biswas A,
|
||
Massey F,
|
||
Turchetti V,
|
||
Lau T,
|
||
Cook E,
|
||
Alvi JR,
|
||
Elbendary HM,
|
||
Jewell JL,
|
||
Riva A,
|
||
Orsini A,
|
||
Vignoli A,
|
||
Federico Z,
|
||
Rosenblum J,
|
||
Schoonjans AS,
|
||
de Wachter M,
|
||
Delgado Alvarez I,
|
||
Felipe-Rucián A,
|
||
Haridy NA,
|
||
Haider S,
|
||
Zaman M,
|
||
Banu S,
|
||
Anwaar N,
|
||
Rahman F,
|
||
Maqbool S,
|
||
Yadav R,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Patel R,
|
||
Radhakrishnan R,
|
||
Prabhu SP,
|
||
Lichtenbelt K,
|
||
Stewart H,
|
||
Murakami Y,
|
||
Löbel U,
|
||
D'Arco F,
|
||
Wakeling E,
|
||
Jones W,
|
||
Hay E,
|
||
Bhate S,
|
||
Jacques TS,
|
||
Mirsky DM,
|
||
Whitehead MT,
|
||
Zaki MS,
|
||
Sultan T,
|
||
Striano P,
|
||
Jansen AC,
|
||
Lequin M,
|
||
de Vries LS,
|
||
Severino M,
|
||
Edmondson AC,
|
||
Menzies L,
|
||
Campeau PM,
|
||
Houlden H,
|
||
McTague A,
|
||
Efthymiou S,
|
||
Mankad K</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Aug 1;147(8):2775-2790.
|
||
doi: 10.1093/brain/awae056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38456468" target="_blank">38456468</a><a href="/pmc/articles/PMC11292905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35189806">Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ivanov I,
|
||
Pacheva I,
|
||
Yordanova R,
|
||
Sotkova I,
|
||
Galabova F,
|
||
Gaberova K,
|
||
Panova M,
|
||
Gheneva I,
|
||
Tsvetanova T,
|
||
Noneva K,
|
||
Dimitrova D,
|
||
Markov S,
|
||
Sapundzhiev N,
|
||
Bichev S,
|
||
Savov A</span><br />
|
||
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
|
||
2023;22(2):207-214.
|
||
doi: 10.2174/1871527321666220221100704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35189806" target="_blank">35189806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34053436">Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
|
||
Jiang W,
|
||
Yan W,
|
||
Tian J,
|
||
Xu J,
|
||
Li Y,
|
||
Zhao Y,
|
||
Dai Y,
|
||
Cheng G,
|
||
Hou G</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 May 31;21(1):213.
|
||
doi: 10.1186/s12883-021-02242-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34053436" target="_blank">34053436</a><a href="/pmc/articles/PMC8166082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33640666">CASK related disorder: Epilepsy and developmental outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giacomini T,
|
||
Nuovo S,
|
||
Zanni G,
|
||
Mancardi MM,
|
||
Cusmai R,
|
||
Pepi C,
|
||
Bertini E,
|
||
Valente EM,
|
||
Battini R,
|
||
Ferrari A,
|
||
Romaniello R,
|
||
Zucca C,
|
||
Borgatti R,
|
||
Uccella S,
|
||
Severino M,
|
||
Striano P,
|
||
Pistorio A,
|
||
Prato G,
|
||
De Grandis E,
|
||
Nobili L,
|
||
Pisciotta L</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Mar;31:61-69.
|
||
Epub 2021 Feb 19
|
||
doi: 10.1016/j.ejpn.2021.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33640666" target="_blank">33640666</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20atrophy%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 (64)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36004946">Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaer K,
|
||
Karaer D,
|
||
Yüksel Z,
|
||
Işikay S</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2022 Oct 1;31(4):167-173.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1097/MCD.0000000000000426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36004946" target="_blank">36004946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25711507">Psychosis in a Patient with Davidoff-Dyke-Masson Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hegde D,
|
||
Guru N,
|
||
Krishna Prasad M,
|
||
Raghuraj U,
|
||
Rao S</span><br />
|
||
<span class="medgenPMjournal">Clin Schizophr Relat Psychoses</span>
|
||
2018 Spring;12(1):9-11.
|
||
Epub 2015 Feb 24
|
||
doi: 10.3371/CSRP.HEGU.022015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25711507" target="_blank">25711507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22891029">Dyke-Davidoff-Masson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma R,
|
||
Sahu R</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2012 Aug 13;2012
|
||
doi: 10.1136/bcr-2012-006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22891029" target="_blank">22891029</a><a href="/pmc/articles/PMC4543771" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21214157">Linear nevus sebaceous syndrome in a patient with atypical associated abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin H,
|
||
Yan J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2010 May 21;47 Online:e1-4.
|
||
doi: 10.3928/01913913-20100324-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21214157" target="_blank">21214157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12682339">Cerebellar ataxia and coenzyme Q10 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamperti C,
|
||
Naini A,
|
||
Hirano M,
|
||
De Vivo DC,
|
||
Bertini E,
|
||
Servidei S,
|
||
Valeriani M,
|
||
Lynch D,
|
||
Banwell B,
|
||
Berg M,
|
||
Dubrovsky T,
|
||
Chiriboga C,
|
||
Angelini C,
|
||
Pegoraro E,
|
||
DiMauro S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2003 Apr 8;60(7):1206-8.
|
||
doi: 10.1212/01.wnl.0000055089.39373.fc.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12682339" target="_blank">12682339</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20atrophy%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 (117)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33168712">Neuropsychological and neuropathological observations of a long-studied case of memory impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Squire LR,
|
||
Kim S,
|
||
Frascino JC,
|
||
Annese J,
|
||
Bennett J,
|
||
Insausti R,
|
||
Amaral DG</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2020 Nov 24;117(47):29883-29893.
|
||
Epub 2020 Nov 9
|
||
doi: 10.1073/pnas.2018960117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33168712" target="_blank">33168712</a><a href="/pmc/articles/PMC7703620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32167590">KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borlot F,
|
||
Abushama A,
|
||
Morrison-Levy N,
|
||
Jain P,
|
||
Puthenveettil Vinayan K,
|
||
Abukhalid M,
|
||
Aldhalaan HM,
|
||
Almuzaini HS,
|
||
Gulati S,
|
||
Hershkovitz T,
|
||
Konanki R,
|
||
Lingappa L,
|
||
Luat AF,
|
||
Shafi S,
|
||
Tabarki B,
|
||
Thomas M,
|
||
Yoganathan S,
|
||
Alfadhel M,
|
||
Arya R,
|
||
Donner EJ,
|
||
Ehaideb SN,
|
||
Gowda VK,
|
||
Jain V,
|
||
Madaan P,
|
||
Myers KA,
|
||
Otsubo H,
|
||
Panda P,
|
||
Sahu JK,
|
||
Sampaio LPB,
|
||
Sharma S,
|
||
Simard-Tremblay E,
|
||
Zak M,
|
||
Whitney R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Apr;61(4):679-692.
|
||
Epub 2020 Mar 13
|
||
doi: 10.1111/epi.16480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32167590" target="_blank">32167590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25711507">Psychosis in a Patient with Davidoff-Dyke-Masson Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hegde D,
|
||
Guru N,
|
||
Krishna Prasad M,
|
||
Raghuraj U,
|
||
Rao S</span><br />
|
||
<span class="medgenPMjournal">Clin Schizophr Relat Psychoses</span>
|
||
2018 Spring;12(1):9-11.
|
||
Epub 2015 Feb 24
|
||
doi: 10.3371/CSRP.HEGU.022015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25711507" target="_blank">25711507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22407754">Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motobayashi M,
|
||
Nishimura-Tadaki A,
|
||
Inaba Y,
|
||
Kosho T,
|
||
Miyatake S,
|
||
Niimi T,
|
||
Nishimura T,
|
||
Wakui K,
|
||
Fukushima Y,
|
||
Matsumoto N,
|
||
Koike K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Apr;158A(4):861-8.
|
||
Epub 2012 Mar 9
|
||
doi: 10.1002/ajmg.a.35235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22407754" target="_blank">22407754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12682339">Cerebellar ataxia and coenzyme Q10 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamperti C,
|
||
Naini A,
|
||
Hirano M,
|
||
De Vivo DC,
|
||
Bertini E,
|
||
Servidei S,
|
||
Valeriani M,
|
||
Lynch D,
|
||
Banwell B,
|
||
Berg M,
|
||
Dubrovsky T,
|
||
Chiriboga C,
|
||
Angelini C,
|
||
Pegoraro E,
|
||
DiMauro S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2003 Apr 8;60(7):1206-8.
|
||
doi: 10.1212/01.wnl.0000055089.39373.fc.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12682339" target="_blank">12682339</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20atrophy%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 (23)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38785164">Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sudnawa KK,
|
||
Li W,
|
||
Calamia S,
|
||
Kanner CH,
|
||
Bain JM,
|
||
Abdelhakim AH,
|
||
Geltzeiler A,
|
||
Mebane CM,
|
||
Provenzano FA,
|
||
Sands TT,
|
||
Fee RJ,
|
||
Montes J,
|
||
Shen Y,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Aug;26(8):101169.
|
||
Epub 2024 May 21
|
||
doi: 10.1016/j.gim.2024.101169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38785164" target="_blank">38785164</a><a href="/pmc/articles/PMC11298291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
|
||
Sudhakar S,
|
||
Biswas A,
|
||
Massey F,
|
||
Turchetti V,
|
||
Lau T,
|
||
Cook E,
|
||
Alvi JR,
|
||
Elbendary HM,
|
||
Jewell JL,
|
||
Riva A,
|
||
Orsini A,
|
||
Vignoli A,
|
||
Federico Z,
|
||
Rosenblum J,
|
||
Schoonjans AS,
|
||
de Wachter M,
|
||
Delgado Alvarez I,
|
||
Felipe-Rucián A,
|
||
Haridy NA,
|
||
Haider S,
|
||
Zaman M,
|
||
Banu S,
|
||
Anwaar N,
|
||
Rahman F,
|
||
Maqbool S,
|
||
Yadav R,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Patel R,
|
||
Radhakrishnan R,
|
||
Prabhu SP,
|
||
Lichtenbelt K,
|
||
Stewart H,
|
||
Murakami Y,
|
||
Löbel U,
|
||
D'Arco F,
|
||
Wakeling E,
|
||
Jones W,
|
||
Hay E,
|
||
Bhate S,
|
||
Jacques TS,
|
||
Mirsky DM,
|
||
Whitehead MT,
|
||
Zaki MS,
|
||
Sultan T,
|
||
Striano P,
|
||
Jansen AC,
|
||
Lequin M,
|
||
de Vries LS,
|
||
Severino M,
|
||
Edmondson AC,
|
||
Menzies L,
|
||
Campeau PM,
|
||
Houlden H,
|
||
McTague A,
|
||
Efthymiou S,
|
||
Mankad K</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Aug 1;147(8):2775-2790.
|
||
doi: 10.1093/brain/awae056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38456468" target="_blank">38456468</a><a href="/pmc/articles/PMC11292905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33640666">CASK related disorder: Epilepsy and developmental outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giacomini T,
|
||
Nuovo S,
|
||
Zanni G,
|
||
Mancardi MM,
|
||
Cusmai R,
|
||
Pepi C,
|
||
Bertini E,
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<div class="nl"><a target="_blank" href="/pubmed/38785164">Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sudnawa KK,
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Li W,
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Epub 2024 May 21
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<span class="bold">PMID: </span><a href="/pubmed/38785164" target="_blank">38785164</a><a href="/pmc/articles/PMC11298291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
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Sudhakar S,
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Sultan T,
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2024 Aug 1;147(8):2775-2790.
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doi: 10.1093/brain/awae056.
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<span class="bold">PMID: </span><a href="/pubmed/38456468" target="_blank">38456468</a><a href="/pmc/articles/PMC11292905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34878169">Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Majethia P,
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Do Rosario MC,
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Karanvir,
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Shankar R,
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<span class="medgenPMjournal">Ann Hum Genet</span>
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2022 Mar;86(2):94-101.
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||
Epub 2021 Dec 8
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doi: 10.1111/ahg.12452.
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<span class="bold">PMID: </span><a href="/pubmed/34878169" target="_blank">34878169</a><a href="/pmc/articles/PMC9990823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34053436">Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
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||
Jiang W,
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Yan W,
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||
Tian J,
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||
Xu J,
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||
Li Y,
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Zhao Y,
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Dai Y,
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||
Cheng G,
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||
Hou G</span><br />
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||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 May 31;21(1):213.
|
||
doi: 10.1186/s12883-021-02242-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34053436" target="_blank">34053436</a><a href="/pmc/articles/PMC8166082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11814746">Dyke-Davidoff-Masson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tasdemir HA,
|
||
Incesu L,
|
||
Yazicioglu AK,
|
||
Belet U,
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Güngör L</span><br />
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<span class="medgenPMjournal">Clin Imaging</span>
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2002 Jan-Feb;26(1):13-7.
|
||
doi: 10.1016/s0899-7071(01)00318-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11814746" target="_blank">11814746</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20atrophy%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 (77)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/17644483">Presentation of childhood CNS tumours: a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wilne S,
|
||
Collier J,
|
||
Kennedy C,
|
||
Koller K,
|
||
Grundy R,
|
||
Walker D</span><br />
|
||
<span class="medgenPMjournal">Lancet Oncol</span>
|
||
2007 Aug;8(8):685-95.
|
||
doi: 10.1016/S1470-2045(07)70207-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17644483" target="_blank">17644483</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20atrophy%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 (1)</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=C5436732%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<a href="/pubmed?term=Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20atrophy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1748227" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1748227" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1748227" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd39caf4a390645ef45631">Neurodevelopmental disorder with seizures and brain atrophy</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cd39c8a68b6b5afc1fcd7b">C5436732[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cd39c6b15b832ebca9a087">Neurodevelopmental disorder with relative macrocephaly and with or without cardi...</a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cd39c684f3725e59e5c7ab">C5394221[trait identifier] AND "OMIM"[submitter] <span class="number">(4)</span></a>
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<div class="tertiary">ClinVar</div>
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