Sporadic hemiplegic migraine with scn1a gene mutation—a case report

Abstract

Sporadic hemiplegic migraine (SHM) is a subtype of hemiplegic migraine, characterized by episodes of migraine with a reversible motor aura, without a positive family history, and is a mimicker of an atypical severe form of migraine, stroke, epilepsy, multiple sclerosis, metabolic disorders, or conversion disorder. Case presentation: We present the case of a young 28-year-old female, who had a history of recurrent reversible attacks of headache with sensory aura accompanied with left hemiparesis for the past 5 years, with no positive family history of similar symptoms. The work-up ruled out differential diagnoses and genetic work-up found a novel SCN1A gene missense variation in exon 26 (c.4855A>G; p.Met1619Val) in a case of SHM. She was discharged on flunarizine for prophylaxis. Conclusions: We describe, for the first time, a case of SHM with a mutation in the SCN1A gene.