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Article

Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.

Seizure - 1 Feb 2022

Hu Chunhui, Luo Tian, Wang Yi

Abstract excerpt

BACKGROUND: Pathogenic variants in SCN8A have been demonstrated with a wide spectrum of epilepsy phenotypes, ranging from benign infantile epilepsy (BIE), to early onset developmental and epileptic encephalopathy (DEE) with moderate to severe developmental delay. In order to provide further insight on the spectrum of SCN8A-related epilepsy, we aimed to explore the clinical and genetic phenotype in Chinese...

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PMID: 34979445
DOI: 10.1016/j.seizure.2021.12.011

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