Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation

Mutations in ion channel genes can cause a diverse group of phenotypes and play important roles in the filed of monogenic neurological diseases [1]. With the application of Next-generation sequencing, more and more genetic and clinical heterogeneity in monogenic neurological diseases was reported, which improved our understanding of the pathophysiologic mechanisms in different monogenic neurological diseases. Herein, we report a girl presenting with intractable absence epilepsy, who had a dramatic response to pyridoxine. Using a panel containing 153 epilepsy-related genes based on Next-generation sequencing, a de novo CACNA1A mutation was found coincidentally. Our report expands the clinical spectrum of CACNA1A-related disorders and the genetic spectrum of pyridoxine dependent epilepsy (PDE).