Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl

Christopher Jackman, Nicole D. Horn, Jean Molleston, Deborah Sokol

Research output: Contribution to journalArticle

37 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)310-313
Number of pages4
JournalPediatric Neurology
Volume40
Issue number4
DOIs
StatePublished - Apr 2009

Fingerprint

Amish
Hepatomegaly
Autistic Disorder
Contactins
Seizures
Genes
Periventricular Leukomalacia
Malformations of Cortical Development
Temporal Lobe
Base Pairing
Single Nucleotide Polymorphism
Epilepsy
Proteins
Phenotype
Biopsy
Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl. / Jackman, Christopher; Horn, Nicole D.; Molleston, Jean; Sokol, Deborah.

In: Pediatric Neurology, Vol. 40, No. 4, 04.2009, p. 310-313.

Research output: Contribution to journalArticle

Jackman, Christopher ; Horn, Nicole D. ; Molleston, Jean ; Sokol, Deborah. / Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl. In: Pediatric Neurology. 2009 ; Vol. 40, No. 4. pp. 310-313.
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