Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report

Article Biochemistry & Molecular Biology

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer et al.

Summary: Missense and truncating variants in the X-chromosome-linked CLCN4 gene were found to cause neurocognitive phenotype. A database of 90 rare CLCN4 missense variants in 90 families was established, revealing new pathophysiological mechanisms and the complexity of pathogenicity assessment. The study highlights the importance of genetic counseling and future research directions.

MOLECULAR PSYCHIATRY (2023)

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Article Clinical Neurology

The molecular and phenotypic spectrum of CLCN4-related epilepsy

Hailan He et al.

Summary: This study expanded the phenotypic and genetic spectrum of CLCN4-related epilepsy, showing that most patients have drug-resistant seizures starting in infancy, with cognitive and language impairment. Genotype-phenotype correlations were complex, with missense variants leading to more severe phenotypes.

EPILEPSIA (2021)

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Article Pediatrics

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Xin Xu et al.

Summary: In this study, a 3-year-old Chinese girl with intellectual disability and brain abnormalities was found to carry a novel pathogenic variant of the CLCN4 gene through whole exome sequencing. This expands the phenotype spectrum of CLCN4 variants in intellectual disability, improving understanding of CLCN4-related disorders and providing valuable information for genetic counselling in affected families.

BMC PEDIATRICS (2021)

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Article Neurosciences