A GRIN2A Mutation (C.2T>C, P. Met1Thr) Identified in A Chinese Family with Epilepsy: A Case Study

Abstract

1. Abstract
Objective: To investigate the genetic causes of epileptic seizures in an 11-year-old Chinese male proband who had experienced them since he was five-year-old.
1.2. Methods: Clinical diagnosis and next-generation sequencing.
1.3. Results: The proband carries a heterozygous missense mutation (c.2T>C, p. Met1Thr) in the GRIN2A gene. This mutation was also found in the two affected family members including proband’s father and his elder sister. This mutation was evaluated as a pathogenic mutation based on the standards and guidelines of ACMG´╝îclinical database, and research publications.