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Article

Gene associated with seizures, autism, and hepatomegaly in an Amish girl.

Pediatric neurology - 1 Apr 2009

Jackman Christopher, Horn Nicole D, Molleston Jean P, Sokol Deborah K

Abstract excerpt

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...

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Source

Identifiers

PMID: 19302947
DOI: 10.1016/j.pediatrneurol.2008.10.013

Genes

CNTNAP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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