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Previous Volume 354:1370-1377 March 30, 2006 Number 13 Next

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SUMMARY

Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K_v1.1) 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.

Source Information

From the Clinic for Special Children, Strasburg, Pa. (K.A.S., E.G.P., D.H.M.); the Translational Genomics Research Institute, Phoenix, Ariz. (M.J.H., J.M.P., D.A.S.); Lancaster General Hospital, Lancaster, Pa. (S.G.); and the Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wis. (S.E.D.).

Drs. Strauss and Puffenberger contributed equally to this article.

Address reprint requests to Dr. Strauss at the Clinic for Special Children, 535 Bunker Hill Rd., Strasburg, PA 17579, or at kstrauss{at}clinicforspecialchildren.org or to Dr. Stephan at the Translational Genomics Research Institute, 445 N. 5th St., Phoenix, AZ 85004, or at dstephan{at}tgen.org.

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