Work

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

Year: 2025

Type: article

Abstract: • 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.

Source: Brain Disorders

DOI: 10.1016/j.dscb.2025.100215

Authors: Alise Skoromka, Sandis Kovaļovs

Institutions: Riga Stradiņš University, Children's Clinical University Hospital

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,810