Acute Confusional Migraine Likely Attributed to an SCN1A Gene Mutation: A Case Report

Background: Acute confusional migraine (ACM) is an uncommon migraine subtype marked by episodes of confusion, disorientation, and agitation, often seen in pediatric populations.It is poorly understood and frequently misdiagnosed due to overlapping features with other neurological conditions.Case Report: In this case report, we present a 14-year-old boy who experienced recurrent episodes of confusion without headaches beginning at age 12, These episodes increased in frequency and were later triggered by physical exertion.Initial evaluations suggested migraine with aura and epilepsy, leading to trials of multiple therapies, including antiepileptic drugs and migraine prophylaxis, with limited improvement.Electroencephalographic findings during an episode revealed a pattern consistent with Frontal Intermittent Rhythmic Delta Activity (FIRDA), this pattern is often misinterpreted as seizure activity, however it has been identified as a finding in electroencephalograms in ACM cases in literature.The patient's episodes responded to valproic acid, reducing both frequency and duration.Genetic testing revealed a heterozygous Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) mutation, this gene encodes a sodium channel critical for neuronal excitability, and its mutations have been implicated in various neurological syndromes, but it has not yet been associated with ACM.This report is the first to propose a potential link between SCN1A mutations and ACM. Conclusion:While ACM remains a diagnosis of exclusion, this case highlights the importance of genetic testing in complex or refractory cases, particularly in the pediatric population.Further research is warranted to explore the genetic underpinnings of ACM, potentially redefining its diagnostic and therapeutic approaches and advancing our understanding of its etiology.