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Article

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.

Muscle & nerve - 1 Apr 2026

Sell Lacey B, Garcia Derek, Hollá Alexandra, Chilton Ilana, DeVries Seth, Gómez-Moreno Ana María, Lubián-Gutiérrez Manuel, Shi Qian, Bhat Manzoor A

Abstract excerpt

CNTNAP1 encodes the Contactin-Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier. It plays a vital role in axonal domain organization and is essential for the propagation of action potentials along nerve fibers. This...

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Identifiers

PMID: 41656591
DOI: 10.1002/mus.70160
PMCID: PMC12969965

Genes

CNTNAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.PMID 41656591Read ↗

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