A novel mutation in the ATP1A2 gene associated with a sporadic hemiplegic migraine and multiple supraventricular arrhythmias: A case report

Abstract

Introduction ATP1A2 mutations are identified as a genetic cause of type 2 hemiplegic migraine, but to date, no ATP1A2 gene variant has been linked to heart rhythm disorders Case presentation A 37-year-old woman presented with sporadic hemiplegic migraine and multiple supraventricular arrhythmias refractory to medical treatment and electrophysiological interventions. Genetic workup revealed a mutation in the ATP1A2 gene (c.1827 + 10delT) which was not previously described. The co-segregation study supported the causal participation of the variant since it was found in the migrainous sister but not in the non-migrainous father. Conclusions We suggest that the c.1827 + 10delT mutation in the ATP1A2 gene is a novel pathogenic mutation linked to both hemiplegic migraine and supraventricular arrhythmias.