A Novel ATP1A2 Mutation in Pediatric Hemiplegic Migraine

Background: Migraine is a common pediatric disorder presenting with unilateral frontal headache. Hemiplegic migraine is a rare and clinically challenging subtype of migraine with aura. There are two different subtypes of hemiplegic migraines; they can occur as either sporadic or familial forms. Recently our understanding of the genetics underlying hemiplegic migraine has rapidly evolved. Familial hemiplegic migraine has been associated with pathogenic mutations in three independent genes; CACNA1A, ATP1A2 and SCN1A. Case presentation: An 11-year-old boy presented with a sudden onset severe frontal headache with associated facial asymmetry and limb weakness on the left. A cranial magnetic resonance imaging (MRI) scan and an electroencephalogram (EEG) was performed which were both reported as normal. A familial hemiplegic migraine gene panel revealed a novel heterozygous mutation c.1159 G > A on exon 9 of the ATP1A2 gene. Conclusion: This case report describes a boy with typical features of hemiplegic migraine and a family history of migraine with aura. Genetic analysis revealed a previously undescribed heterozygous mutation in the ATP1A2 gene.