Details of Disease

General Information of Disease (ID: DIS47IBV)

Disease Name Cortical dysplasia-focal epilepsy syndrome
Synonyms Pitt-Hopkins-like syndrome 1; PTHSL1; cortical dysplasia-focal epilepsy syndrome; CDFES; Pitt-Hopkins like syndrome 1; CDFE syndrome
Definition
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.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISD9JZD: Pitt-Hopkins-like syndrome
DISYKSRF: Genetic disease
DIS47IBV: Cortical dysplasia-focal epilepsy syndrome
Disease Identifiers
MONDO ID
MONDO_0012400
MESH ID
C567657
UMLS CUI
C2750246
OMIM ID
610042
MedGen ID
413258
Orphanet ID
163681

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNTNAP2 OT48T2ZP Definitive Autosomal recessive [1]
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References

1 Possible case of Pitt-Hopkins syndrome in sibs. Am J Med Genet. 2001 Oct 1;103(2):157-9. doi: 10.1002/ajmg.1523.