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Article Dans Une Revue European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Année : 2022

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period

Résumé

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. Severe hypotonia was a constant feature. When compared to previous reports, the most important clinical differences observed in our patients were the absence of antenatal problems and, in two of them, the lack of respiratory distress. Less commonly reported characteristics such as epileptic seizures, dystonia, and impaired communication skills were also observed. MRIs revealed hypomyelination or abnormal white matter signal, cerebral or cerebellar atrophy. The present observations support a wider than initially reported clinical spectrum, including survival after the neonatal period and additional neurological features. They contribute to better delineate the phenotype-genotype correlations for CNTNAP1. In addition, we report one more family with two sibs who carry a missense variant of uncertain significance which we propose could be associated with a milder phenotype.

Dates et versions

hal-03939339 , version 1 (14-01-2023)

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Citer

Pauline Garel, Gaetan Lesca, Dorothée Ville, Anne-Lise Poulat, Nicolas Chatron, et al.. CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2022, 37, pp.98-104. ⟨10.1016/j.ejpn.2022.01.015⟩. ⟨hal-03939339⟩
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