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Article

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

The New England journal of medicine - 30 Mar 2006

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

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16571880
DOI: 10.1056/NEJMoa052773

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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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.PMID 16571880Read ↗

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