Article
Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine.
Molecular genetics & genomic medicine - 1 Jul 2020
Neng Xiao, Xiao Mao, Yuanlu Chen, Qinyan Li, Li Shu, Zhanyi Song
Abstract excerpt
BACKGROUND: Benign childhood epilepsy with centrotemporal spikes (BECTS) or benign rolandic epilepsy is the most common epileptic syndrome in school-age children. Genetics is an important factor in BECTS pathogenesis, and <10 genes were associated with BECTS. This study aimed to identify novel genetic causes of BECTS. METHODS: We conducted whole-exome sequencing on a patient with BECTS and validated the findings...
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