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Article

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

Journal of neurology - 1 Aug 2024

He Hailan, Li Xinyi, Guzman G A, Bungert-Plümke Stefanie, Franzen Arne, Lin XueQin, Zhu Hongmin, Peng Guilan, Zhang Hongwei, Yu Yonglin, Sun Suzhen, Huang Zhongqin, Zhai Qiongxiang, Chen Zheng, Peng Jing, Guzman Raul E

Abstract excerpt

OBJECTIVES: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants. METHODS: We described 13 individuals with CLCN4-related neurodevelopmental disorder. We analyzed the functional consequence of the unreported variants...

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PMID: 38758281
DOI: 10.1007/s00415-024-12383-4

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