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.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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