Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2006 Mar 30;354(13):1370-7.
doi: 10.1056/NEJMoa052773.

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

Kevin A Strauss  1 , Erik G Puffenberger, Matthew J Huentelman, Steven Gottlieb, Seth E Dobrin, Jennifer M Parod, Dietrich A Stephan, D Holmes Morton
Affiliations
Free article

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

Kevin A Strauss et al. N Engl J Med. .
Free article

Abstract

Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures began in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation developed in all children. Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2.

PubMed Disclaimer

MeSH terms