Novel mutations in SCN9A occurring with fever-associated seizures or epilepsy

Seizure : the Journal of the British Epilepsy Association
Jian DingQiong-Xiang Zhai

Abstract

This study aimed to identify disease-causing gene mutations in individuals belonging to the Southern Chinese Han population diagnosed with fever-associated seizures or epilepsy (FASE). Blood samples and clinical data were collected from 78 children with FASE. All subjects were screened for mutations using whole-exome sequencing, and mutations were validated using the Sanger sequencing method. Three novelSCN9A heterozygous missense mutations (I775M, R429C and A442T) were noted, which are associated with febrile seizures (FS), febrile seizures plus (FS+) and genetic epilepsy with febrile seizures plus (GEFS+), respectively. The R429C and A442T mutations are located in the large cytoplasmic loop between transmembrane topological domains, whereas I775M is located in the topological domain DIIS2. The I775M and R429C mutations have highly evolutionarily conserved residues and are predicted to affect the SCN9A protein function according to bioinformatics tools. These three mutations were not identified in 300 unrelated control subjects. Mutations in theSCN9A gene may be linked with FASE.

Citations

Feb 18, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Tian ZhangTao Fang
Sep 9, 2020·Breastfeeding Medicine : the Official Journal of the Academy of Breastfeeding Medicine·Xia PengYu-Ming Xu
Jul 1, 2020·Pflügers Archiv : European journal of physiology·Mark D Baker, Mohammed A Nassar
Apr 26, 2021·Seizure : the Journal of the British Epilepsy Association·Hongxia MaQiongxiang Zhai

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