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cortical dysplasia-focal epilepsy syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.
Uniprot Description A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones.
Disease Ontology Description A brain disease characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has material basis in homozygous or compound heterozygous mutation in the CNTNAP2 gene on chromosome 7q35-q36.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090130
NCIT:C133743
OMIM:610042
Orphanet:163681
UMLS:C1864887
MONDO:0012400
High level summary of knowledge for a disease, including descriptions and datasource references.