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Article

The molecular and phenotypic spectrum of CLCN4-related epilepsy.

Epilepsia - 1 Jun 2021

He Hailan, Guzman Raul E, Cao Dezhi, Sierra-Marquez Juan, Yin Fei, Fahlke Christoph, Peng Jing, Stauber Tobias

Abstract excerpt

OBJECTIVE: This study was undertaken to expand the phenotypic and genetic spectrum of CLCN4-related epilepsy and to investigate genotype-phenotype correlations. METHODS: We systematically reviewed the phenotypic and genetic spectrum of newly diagnosed and previously reported patients with CLCN4-related epilepsy. Three novel variants identified in four patients reported in this study were evaluated through in...

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PMID: 33951195
DOI: 10.1111/epi.16906

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