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Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise
Xiao Neng1, Mao Xiao2,3,4, Chen Yuanlu5
1Department of Pediatric Neurology, Chenzhou First People's Hospital, Chenzhou, China.
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 by Sanger sequencing in a pedigree with three patients.
Results:
CHRNA4 c.1007G>A was identified in three patients with BECTS in a pedigree. Carbamazepine, which should be carefully used in BECTS, was observed to be effective in the treatment of our atypical BECTS proband based on the molecular diagnosis of CHRNA4.
Conclusion:
This is the first study on CHRNA4 variant in BECTS, which widened the genetic spectrum of BECTS and contributed to precise medicine in BECTS.
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