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Article

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2022

Garel Pauline, Lesca Gaetan, Ville Dorothée, Poulat Anne-Lise, Chatron Nicolas, Sanlaville Damien, Des Portes Vincent, Arzimanoglou Alexis, Lion-François Laurence

Abstract excerpt

CNTNAP1 encodes CASPR1, involved in the paranodal junction. Thirty-three patients, with CNTNAP1 biallelic mutations have been described previously. Most of them had a very severe neurological impairment and passed away in the first months of life. We identified four patients, from two unrelated families, who survived over the neonatal period. Exome sequencing showed compound heterozygous or homozygous variants....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35182943
DOI: 10.1016/j.ejpn.2022.01.015

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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