H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus.

ABSTRACT:

Purpose

The aim of this was to discover disease-causing gene mutations linked to genetic epilepsy with febrile seizures plus (GEFS+) in a family in the Southern Chinese Han population. Of a three-generation pedigree of 18 members in this family, 4 were affected with GEFS+.

Method

Blood samples of 7 family members-3 affected and 4 unaffected individuals-were collected. Whole-exome sequencing was performed to assess for genetic mutations in two of the affected individuals and two of the unaffected individuals.

Results

Fourteen potentially consequential mutations were found in the two affected individuals and were validated with the Sanger sequencing method. Blood DNA tested in polymerase chain reaction with KCNAB3 primers revealed that one novel missense mutation, c.773

SUBMITTER: Ding J 

PROVIDER: S-EPMC7749510 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature