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<meta name="keywords" content="C4022737, neurodevelopmental abnormality, pathologic function, 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="A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=868343
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ConceptID=C4022737
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental abnormality</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868343</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:">C4022737</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012759">HP:0012759</a></td></tr>
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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>
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<div class="portlet_content ln">A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Neurodevelopmental abnormality</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="matched_ds">Neurodevelopmental abnormality</span><ul><li><span class="TLline"><a href="/medgen/324613" ref="tree=MeSH" title="MedGen record for Developmental regression">Developmental regression</a></span><ul><li><span class="TLline"><a href="/medgen/815091" ref="tree=MeSH" title="MedGen record for Cognitive regression">Cognitive regression</a></span></li><li><span class="TLline"><a href="/medgen/478627" ref="tree=MeSH" title="MedGen record for Motor regression">Motor regression</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341348" ref="tree=MeSH" title="MedGen record for Developmental stagnation">Developmental stagnation</a></span><ul><li><span class="TLline"><a href="/medgen/324612" ref="tree=MeSH" title="MedGen record for Developmental stagnation at onset of seizures">Developmental stagnation at onset of seizures</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/811461" ref="tree=MeSH" title="MedGen record for Intellectual disability">Intellectual disability</a></span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41345" ref="tree=MeSH" title="MedGen record for 5p partial monosomy syndrome">5p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4385" ref="tree=MeSH" title="MedGen record for Down syndrome">Down syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/693553" ref="tree=MeSH" title="MedGen record for Translocation Down syndrome">Translocation Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/760825" ref="tree=MeSH" title="MedGen record for Trisomy 21">Trisomy 21</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/507499" ref="tree=MeSH" title="MedGen record for Intellectual disability, borderline">Intellectual disability, borderline</a></span></li><li><span class="TLline"><a href="/medgen/10044" ref="tree=MeSH" title="MedGen record for Intellectual disability, mild">Intellectual disability, mild</a></span></li><li><span class="TLline"><a href="/medgen/7680" ref="tree=MeSH" title="MedGen record for Intellectual disability, moderate">Intellectual disability, moderate</a></span></li><li><span class="TLline"><a href="/medgen/892508" ref="tree=MeSH" title="MedGen record for Intellectual disability, profound">Intellectual disability, profound</a></span></li><li><span class="TLline"><a href="/medgen/337397" ref="tree=MeSH" title="MedGen record for Intellectual disability, progressive">Intellectual disability, progressive</a></span></li><li><span class="TLline"><a href="/medgen/48638" ref="tree=MeSH" title="MedGen record for Intellectual disability, severe">Intellectual disability, severe</a></span></li><li><span class="TLline"><a href="/medgen/46057" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome">Prader-Willi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826086" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to imprinting mutation">Prader-Willi syndrome due to imprinting mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826079" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15">Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1826129" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to paternal 15q11q13 deletion">Prader-Willi syndrome due to paternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826085" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to translocation">Prader-Willi syndrome due to translocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" 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syndrome">Williams syndrome</a></span></li><li><span class="TLline"><a href="/medgen/211749" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability">X-linked intellectual disability</a></span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/408200" ref="tree=MeSH" title="MedGen record for Classical Lissencephalies and Subcortical Band Heterotopias">Classical Lissencephalies and Subcortical Band Heterotopias</a></span></li><li><span class="TLline"><a href="/medgen/75556" ref="tree=MeSH" title="MedGen record for Coffin-Lowry syndrome">Coffin-Lowry syndrome</a></span></li><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44030" ref="tree=MeSH" title="MedGen record for Menkes kinky-hair syndrome">Menkes kinky-hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7734" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-II">Mucopolysaccharidosis, MPS-II</a></span></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span></li><li><span class="TLline"><a href="/medgen/48441" ref="tree=MeSH" title="MedGen record for Rett syndrome">Rett syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/868344" ref="tree=MeSH" title="MedGen record for Neurodevelopmental delay">Neurodevelopmental delay</a></span><ul><li><span class="TLline"><a href="/medgen/105318" ref="tree=MeSH" title="MedGen record for Delayed speech and language development">Delayed speech and language development</a></span><ul><li><span class="TLline"><a href="/medgen/340737" ref="tree=MeSH" title="MedGen record for Absent speech">Absent speech</a></span></li><li><span class="TLline"><a href="/medgen/141568" ref="tree=MeSH" title="MedGen record for Expressive language delay">Expressive language delay</a></span></li><li><span class="TLline"><a href="/medgen/451061" ref="tree=MeSH" title="MedGen record for Receptive language delay">Receptive language delay</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107838" ref="tree=MeSH" title="MedGen record for Global developmental delay">Global developmental delay</a></span><ul><li><span class="TLline"><a href="/medgen/861405" ref="tree=MeSH" title="MedGen record for Mild global developmental delay">Mild global developmental delay</a></span></li><li><span class="TLline"><a href="/medgen/500807" ref="tree=MeSH" title="MedGen record for Moderate global developmental delay">Moderate global developmental delay</a></span></li><li><span class="TLline"><a href="/medgen/766364" ref="tree=MeSH" title="MedGen record for Profound global developmental delay">Profound global developmental delay</a></span></li><li><span class="TLline"><a href="/medgen/332436" ref="tree=MeSH" title="MedGen record for Severe global developmental delay">Severe global developmental delay</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/381392" ref="tree=MeSH" title="MedGen record for Motor delay">Motor delay</a></span><ul><li><span class="TLline"><a href="/medgen/869257" ref="tree=MeSH" title="MedGen record for Delayed fine motor development">Delayed fine motor development</a></span></li><li><span class="TLline"><a href="/medgen/332508" ref="tree=MeSH" title="MedGen record for Delayed gross motor development">Delayed gross motor development</a></span></li><li><span class="TLline"><a href="/medgen/314808" ref="tree=MeSH" title="MedGen record for fine motor delay">fine motor delay</a></span></li><li><span class="TLline"><a href="/medgen/256151" ref="tree=MeSH" title="MedGen record for Persistent head lag">Persistent head lag</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/871302" ref="tree=MeSH" title="MedGen record for Specific learning disability">Specific learning disability</a></span><ul><li><span class="TLline"><a href="/medgen/452779" ref="tree=MeSH" title="MedGen record for Dyscalculia">Dyscalculia</a></span></li><li><span class="TLline"><a href="/medgen/96906" ref="tree=MeSH" title="MedGen record for Dyslexia">Dyslexia</a></span><ul><li><span class="TLline"><a href="/medgen/3936" ref="tree=MeSH" title="MedGen record for Dyslexia, Acquired">Dyslexia, Acquired</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1052886" ref="tree=MeSH" title="MedGen record for Dysorthography">Dysorthography</a></span></li><li><span class="TLline"><a href="/medgen/869275" ref="tree=MeSH" title="MedGen record for Impaired visuospatial constructive cognition">Impaired visuospatial constructive cognition</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_332082"><div><strong>Autosomal dominant nocturnal frontal lobe epilepsy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332082</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.">C1835905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) is a seizure disorder characterized by clusters of nocturnal motor seizures that are often stereotyped and brief (<2 minutes). They vary from simple arousals from sleep to dramatic, often hyperkinetic events with tonic or dystonic features. Affected individuals may experience an aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Age of onset ranges from infancy to adulthood. About 80% of individuals develop ADSHE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidities, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADSHE is lifelong but not progressive. As an individual reaches middle age, seizures may become milder and less frequent.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332082">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_375105"><div><strong>Seizures, benign familial infantile, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375105</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.">C1843140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375105">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_381313"><div><strong>Seizures, benign familial infantile, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381313</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.">C1853995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PRRT2-related disorder, caused by heterozygous pathogenic variants in the gene PRRT2 (associated with aberrant synaptic transmission), is characterized by three core episodic neurologic phenotypes: epilepsy, movement disorder, and migraine. Age at onset and phenotypes range from neonatal/infantile (self-limited [familial] infantile epilepsy), to childhood (childhood absence epilepsy), to adolescence to adulthood (paroxysmal kinesigenic dyskinesia [PKD] or migraine). As individuals with PRRT2-related disorder age, they may exhibit one of more of these core phenotypes in various combinations, either concurrently or sequentially. Additionally, family members with the same pathogenic PRRT2 variant may display different core phenotypes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/381313">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356123"><div><strong>Infantile convulsions and choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356123</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.">C1865926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PRRT2-related disorder, caused by heterozygous pathogenic variants in the gene PRRT2 (associated with aberrant synaptic transmission), is characterized by three core episodic neurologic phenotypes: epilepsy, movement disorder, and migraine. Age at onset and phenotypes range from neonatal/infantile (self-limited [familial] infantile epilepsy), to childhood (childhood absence epilepsy), to adolescence to adulthood (paroxysmal kinesigenic dyskinesia [PKD] or migraine). As individuals with PRRT2-related disorder age, they may exhibit one of more of these core phenotypes in various combinations, either concurrently or sequentially. Additionally, family members with the same pathogenic PRRT2 variant may display different core phenotypes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356123">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767520"><div><strong>Mitochondrial complex III deficiency nuclear type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767520</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.">C3554606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.\n\nMitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.\n\nThe severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. \n\nMost people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767520">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863730"><div><strong>Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863730</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.">C4015293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863730">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934763"><div><strong>Progeroid and marfanoid aspect-lipodystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934763</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.">C4310796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934763">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1638448"><div><strong>Benign familial neonatal-infantile seizures 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638448</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.">C4551769</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Infantile Seizures The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p. BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13. BFIS6 (see 610353) is caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1638448">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant nocturnal frontal lobe epilepsy 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Benign familial neonatal-infantile seizures 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile convulsions and choreoathetosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex III deficiency nuclear type 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934763" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progeroid and marfanoid aspect-lipodystrophy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizures, benign familial infantile, 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizures, benign familial infantile, 3</a></div></div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/29353090">Investigating the prevalence of febrile convulsion in Kayseri, Turkey: An assessment of the risk factors for recurrence of febrile convulsion and for development of epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Canpolat M,
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Per H,
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Gumus H,
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Elmali F,
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Kumandas S</span><br />
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<span class="medgenPMjournal">Seizure</span>
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2018 Feb;55:36-47.
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Epub 2018 Jan 10
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doi: 10.1016/j.seizure.2018.01.007.
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<span class="bold">PMID: </span><a href="/pubmed/29353090" target="_blank">29353090</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26712863">Clinical Utility and Lifespan Profiling of Neurological Soft Signs in Schizophrenia Spectrum Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chan RC,
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Xie W,
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Geng FL,
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Wang Y,
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Lui SS,
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Wang CY,
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Yu X,
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Cheung EF,
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Rosenthal R</span><br />
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<span class="medgenPMjournal">Schizophr Bull</span>
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2016 May;42(3):560-70.
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Epub 2015 Dec 28
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doi: 10.1093/schbul/sbv196.
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<span class="bold">PMID: </span><a href="/pubmed/26712863" target="_blank">26712863</a><a href="/pmc/articles/PMC4838107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22neurodevelopmental%20abnormality%22%5Btiab%3A~0%5D)%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 (2)</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/31305494">Zika circulation, congenital syndrome, and current guidelines: making sense of it all for the traveller.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen LH,
|
||
Wilson ME</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Infect Dis</span>
|
||
2019 Oct;32(5):381-389.
|
||
doi: 10.1097/QCO.0000000000000575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31305494" target="_blank">31305494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19458650">Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park TK,
|
||
Wu Z,
|
||
Kjellstrom S,
|
||
Zeng Y,
|
||
Bush RA,
|
||
Sieving PA,
|
||
Colosi P</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2009 Jul;16(7):916-26.
|
||
Epub 2009 May 21
|
||
doi: 10.1038/gt.2009.61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19458650" target="_blank">19458650</a><a href="/pmc/articles/PMC2774250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10669212">Plantar grasp reflex in high-risk infants during the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiriou DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2000 Jan;22(1):75-6.
|
||
doi: 10.1016/s0887-8994(99)00110-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10669212" target="_blank">10669212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7678187">Which child will have a febrile seizure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bethune P,
|
||
Gordon K,
|
||
Dooley J,
|
||
Camfield C,
|
||
Camfield P</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1993 Jan;147(1):35-9.
|
||
doi: 10.1001/archpedi.1993.02160250037013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7678187" target="_blank">7678187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3068660">Management of an infant with an apparent life-threatening event.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahn A,
|
||
Rebuffat E,
|
||
Sottiaux M,
|
||
Blum D</span><br />
|
||
<span class="medgenPMjournal">Pediatrician</span>
|
||
1988;15(4):204-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3068660" target="_blank">3068660</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20abnormality%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 (42)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38821540">Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene D,
|
||
Thys C,
|
||
Berry IR,
|
||
Jarvis J,
|
||
Ortibus E,
|
||
Mumford AD,
|
||
Freson K,
|
||
Turro E</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2024 Aug;30(8):2165-2169.
|
||
Epub 2024 May 31
|
||
doi: 10.1038/s41591-024-03085-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38821540" target="_blank">38821540</a><a href="/pmc/articles/PMC11333284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33832673">Amblyopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levi DM</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2021;178:13-30.
|
||
doi: 10.1016/B978-0-12-821377-3.00002-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33832673" target="_blank">33832673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28799518">A neurodevelopment and neuroplasticity-based framework for early intervention in psychotic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bora E</span><br />
|
||
<span class="medgenPMjournal">Psychol Med</span>
|
||
2018 Feb;48(3):353-361.
|
||
Epub 2017 Aug 11
|
||
doi: 10.1017/S0033291717002045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28799518" target="_blank">28799518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10669212">Plantar grasp reflex in high-risk infants during the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiriou DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2000 Jan;22(1):75-6.
|
||
doi: 10.1016/s0887-8994(99)00110-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10669212" target="_blank">10669212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7678187">Which child will have a febrile seizure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bethune P,
|
||
Gordon K,
|
||
Dooley J,
|
||
Camfield C,
|
||
Camfield P</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1993 Jan;147(1):35-9.
|
||
doi: 10.1001/archpedi.1993.02160250037013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7678187" target="_blank">7678187</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20abnormality%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 (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19504426">Neurodevelopmental status of preterm newborns at infancy, born at a tertiary care center in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saldir M,
|
||
Sarici SU,
|
||
Bakar EE,
|
||
Ozcan O</span><br />
|
||
<span class="medgenPMjournal">Am J Perinatol</span>
|
||
2010 Feb;27(2):121-8.
|
||
Epub 2009 Jun 5
|
||
doi: 10.1055/s-0029-1224863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19504426" target="_blank">19504426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19371283">Developmental outcomes in persistent pulmonary hypertension treated with nitric oxide therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosono S,
|
||
Ohno T,
|
||
Kimoto H,
|
||
Shimizu M,
|
||
Takahashi S,
|
||
Harada K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2009 Feb;51(1):79-83.
|
||
doi: 10.1111/j.1442-200X.2008.02664.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19371283" target="_blank">19371283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7618908">Incidence of neurological complications of surgery for congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fallon P,
|
||
Aparício JM,
|
||
Elliott MJ,
|
||
Kirkham FJ</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1995 May;72(5):418-22.
|
||
doi: 10.1136/adc.72.5.418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7618908" target="_blank">7618908</a><a href="/pmc/articles/PMC1511096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1999070">Renal sonography in long standing Lesch-Nyhan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kenney IJ</span><br />
|
||
<span class="medgenPMjournal">Clin Radiol</span>
|
||
1991 Jan;43(1):39-41.
|
||
doi: 10.1016/s0009-9260(05)80352-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1999070" target="_blank">1999070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2896519">Primitive (developmental) reflexes and diffuse cerebral dysfunction in schizophrenia and bipolar affective disorder: overrepresentation in patients with tardive dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Youssef HA,
|
||
Waddington JL</span><br />
|
||
<span class="medgenPMjournal">Biol Psychiatry</span>
|
||
1988 Apr 15;23(8):791-6.
|
||
doi: 10.1016/0006-3223(88)90067-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2896519" target="_blank">2896519</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20abnormality%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39306980">Risk factors for secondary epilepsy following febrile seizures in children: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Jing Q,
|
||
Li S,
|
||
Liu Y,
|
||
Lin Z,
|
||
Han X,
|
||
Xu G,
|
||
Dai S,
|
||
Zhang J,
|
||
Ren C</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2024 Dec;161:110051.
|
||
Epub 2024 Sep 21
|
||
doi: 10.1016/j.yebeh.2024.110051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39306980" target="_blank">39306980</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25065902">Neurodevelopmental origin of cognitive impairment in schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bora E</span><br />
|
||
<span class="medgenPMjournal">Psychol Med</span>
|
||
2015 Jan;45(1):1-9.
|
||
Epub 2014 May 30
|
||
doi: 10.1017/S0033291714001263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25065902" target="_blank">25065902</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11383973">Schizophrenia, a neurodegenerative disorder with neurodevelopmental antecedents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashe PC,
|
||
Berry MD,
|
||
Boulton AA</span><br />
|
||
<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
|
||
2001 May;25(4):691-707.
|
||
doi: 10.1016/s0278-5846(01)00159-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11383973" target="_blank">11383973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10669212">Plantar grasp reflex in high-risk infants during the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiriou DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2000 Jan;22(1):75-6.
|
||
doi: 10.1016/s0887-8994(99)00110-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10669212" target="_blank">10669212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7678187">Which child will have a febrile seizure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bethune P,
|
||
Gordon K,
|
||
Dooley J,
|
||
Camfield C,
|
||
Camfield P</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1993 Jan;147(1):35-9.
|
||
doi: 10.1001/archpedi.1993.02160250037013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7678187" target="_blank">7678187</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20abnormality%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 (25)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25065902">Neurodevelopmental origin of cognitive impairment in schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bora E</span><br />
|
||
<span class="medgenPMjournal">Psychol Med</span>
|
||
2015 Jan;45(1):1-9.
|
||
Epub 2014 May 30
|
||
doi: 10.1017/S0033291714001263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25065902" target="_blank">25065902</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19458650">Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park TK,
|
||
Wu Z,
|
||
Kjellstrom S,
|
||
Zeng Y,
|
||
Bush RA,
|
||
Sieving PA,
|
||
Colosi P</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2009 Jul;16(7):916-26.
|
||
Epub 2009 May 21
|
||
doi: 10.1038/gt.2009.61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19458650" target="_blank">19458650</a><a href="/pmc/articles/PMC2774250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11383973">Schizophrenia, a neurodegenerative disorder with neurodevelopmental antecedents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashe PC,
|
||
Berry MD,
|
||
Boulton AA</span><br />
|
||
<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
|
||
2001 May;25(4):691-707.
|
||
doi: 10.1016/s0278-5846(01)00159-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11383973" target="_blank">11383973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10669212">Plantar grasp reflex in high-risk infants during the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiriou DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2000 Jan;22(1):75-6.
|
||
doi: 10.1016/s0887-8994(99)00110-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10669212" target="_blank">10669212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7678187">Which child will have a febrile seizure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bethune P,
|
||
Gordon K,
|
||
Dooley J,
|
||
Camfield C,
|
||
Camfield P</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1993 Jan;147(1):35-9.
|
||
doi: 10.1001/archpedi.1993.02160250037013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7678187" target="_blank">7678187</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20abnormality%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 (27)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/30472163">Meta-analyses of cavum septum pellucidum in mood disorders in comparison with healthy controls or schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beraldi GH,
|
||
Prado KS,
|
||
Amann BL,
|
||
Radua J,
|
||
Friedman L,
|
||
Elkis H</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2018 Dec;28(12):1325-1338.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1016/j.euroneuro.2018.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30472163" target="_blank">30472163</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20abnormality%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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