天美传媒

Abstract

GRIN2A mutations have been implicated in a spectrum of neurological disorders, including epilepsy and speech disorders. This comprehensive review explores the intricate relationship between GRIN2A mutations, epilepsy, and speech disorders, with a special emphasis on the evolving landscape of precision therapeutics. We delve into the molecular mechanisms underlying GRIN2A-related pathophysiology, the clinical manifestations of epilepsy and speech disorders associated with GRIN2A mutations, and the challenges in diagnosis and management. Furthermore, we discuss recent advancements in precision therapeutics targeting GRIN2A-related conditions, including potential pharmacological interventions and emerging gene therapy approaches. By synthesizing current knowledge and future directions, this review aims to provide insights into the intricate interplay between genetics, neurobiology, and therapeutics in the context of GRIN2A-linked epilepsy and speech disorders.