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1: N Engl J Med. 2006 Mar 30;354(13):1370-7.Click here to read Links

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

Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH.

Clinic for Special Children, Strasburg, Pa 17579, USA. kstrauss@clinicforspecialchildren.org

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. Copyright 2006 Massachusetts Medical Society.

PMID: 16571880 [PubMed - indexed for MEDLINE]

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