A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits.

Abstract excerpt

CNTNAP1 encodes the contactin-associated protein 1 (Cntnap1) which localizes to the paranodal region in all myelinated axons and is essential for axonal domain organization and the propagation of action potentials. To date, close to 45 reported human CNTNAP1 variants have been identified that are associated with dysregulation and disorganization of the axonal domains, resulting in various forms of congenital...

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