Incidental DEPDC5 variant in a child with sporadic hemiplegic migraine: a pitfall in clinical neurogenetics
Abstract
IntroductionHemiplegic migraine (HM) is a rare subtype of migraine with aura characterized by reversible motor weakness associated with other focal neurological symptoms. Although pathogenic variants in genes such as CACNA1A, ATP1A2, and SCN1A are classically associated with HM, many sporadic cases remain genetically unresolved. The increasing use of broad next-generation sequencing panels has also led to the frequent identification of incidental variants in genes associated with cortical excitability disorders, posing challenges in clinical interpretation.Case presentationWe report a 9-year-old boy with normal neurodevelopment and no family history of migraine or epilepsy who presented with three stereotyped episodes over one year. Each episode began with paresthesia in one hand, progressing to the ipsilateral arm and face, followed by transient weakness affecting the same limb. Subsequently, the patient developed contralateral pulsatile hemicranial headache associated with nausea and marked somnolence, while remaining arousable, oriented, and able to communicate appropriately throughout the episodes. Symptoms resolved completely after each attack, with alternating laterality between episodes. Interictal neurological examination, brain magnetic resonance imaging, and two prolonged electroencephalograms recorded during wakefulness and sleep were normal. A targeted migraine panel including CACNA1A, ATP1A2, ATP1A3, SCN1A, PRRT2, and PNKD revealed no pathogenic variants. An…
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