Article
Alterations of functional connectivity density in a Chinese family with a mild phenotype associated with a novel inherited variant of SCN8A.
Epilepsy & behavior : E&B - 1 Nov 2020
Zhu Qiong, Jiang Sisi, Luo Cheng, Yang Jiyun, Yu Liang
Abstract excerpt
OBJECTIVE: Only a few heritable SCN8A variants have been described in patients with a mild phenotype of epilepsy. Here, we describe a Chinese family with a novel inherited SCN8A variant and investigate changes in spontaneous cerebral activity during the resting-state in magnetic resonance imaging (MRI)-negative patients with epilepsy and their unaffected siblings. METHODS: A gene panel targeting 535 epilepsy...
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