CNTNAP1

Publications

Laquérriere A et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet 2014;23(9):2279–2289. PMID: 24319099.

Hengel H et al. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Neurol Genet 2017;3(2):e144. PMID: 28374019.

Lakhani  et al. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. Eur J Med Genet. 2017;60(5):245–249. PMID: 28254648.

Low KJ et al. Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. Eur J Hum Genet. 2018;26(6):796-807. PMID: 29511323.

Nizon M et al. Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. Eur J Hum Genet EJHG. 2016;25:150–152. PMID: 27782105.

Sabbagh S et al. CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Case Rep Med. 2020;:8795607. PMID: 32328110