Early-onset oculogyric crises in an infant with self-limited familial neonatal epilepsy : A case report

• Rare case of KCNQ2 mutation with oculogyric crises. • Early-onset motor seizures successfully managed with valproic acid. • Genetic testing confirmed pathogenic KCNQ2 duplication. • No recurrence of seizures or crises by 15 months. • Emphasizes need for genetic testing in neonatal epilepsy. Oculogyric crises have been less commonly reported in KCNQ2-related disorders. This case report aims to illustrate the clinical variability of KCNQ2-related disorders and emphasize the importance of genetic diagnostics in neonatal epilepsy. To present a unique case of self-limited familial neonatal epilepsy associated with an inherited KCNQ2 mutation, highlighting the occurrence of oculogyric crises. Clinical evaluation, electroencephalography, magnetic resonance imaging, and genetic testing via whole-exome sequencing was utilized. A female infant exhibited early-onset seizures and atypical oculogyric crises. Genetic analysis revealed a pathogenic KCNQ2 duplication inherited from the mother. Treatment with valproic acid led to seizure control, and follow-up demonstrated normal psychomotor development. This case underscores the phenotypic variability of KCNQ2-related disorders and the role of genetic testing in refining diagnosis and management.