title: Gene associated with seizures, autism, and hepatomegaly in an Amish girl.
abstract: A genetic defect causing autism and epilepsy involving the contactin associated protein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amish children. These children were found to have focal seizures and autistic regression. Surgical biopsy of the anterior temporal lobe of two such children revealed cortical dysplasia and a single nucleotide polymorphism mutation of this gene. The present case is that of a related but geographically distant proband with a similar phenotype but a single-base-pair deletion in the CNTNAP2 gene. This patient exhibited the additional features of periventricular leukomalacia and hepatomegaly.
authors.affiliation: Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Jackman
authors.forename: Nicole D
authors.initials: ND
authors.lastname: Horn
authors.forename: Jean P
authors.initials: JP
authors.lastname: Molleston
authors.forename: Deborah K
authors.initials: DK
authors.lastname: Sokol
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D017029:Epilepsy, Complex Partial / Q000150:complications / Q000235:genetics*; D005260:Female; D006529:Hepatomegaly / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000502:physiology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013163:Splenomegaly / Q000235:genetics / Q000473:pathology
chemical_list: C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins