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Article

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

Journal of neuropathology and experimental neurology - 1 Dec 2016

Vallat Jean-Michel, Nizon Mathilde, Magee Alex, Isidor Bertrand, Magy Laurent, Péréon Yann, Richard Laurence, Ouvrier Robert, Cogné Benjamin, Devaux Jérôme, Zuchner Stephan, Mathis Stéphane

Abstract excerpt

Congenital hypomyelinating neuropathy is a rare neonatal syndrome responsible for hypotonia and weakness. Nerve microscopic examination shows amyelination or hypomyelination. Recently, mutations in CNTNAP1 have been described in a few patients. CNTNAP1 encodes contactin-associated protein 1 (caspr-1), which is an essential component of the paranodal junctions of the peripheral and central nervous systems, and is...

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Share to Cell Adhesion Molecules, Neuronal
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27818385
DOI: 10.1093/jnen/nlw093
PMCID: PMC6394372

Genes

CNTNAP1

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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