SCN2A gene mutations with epilepsy: single center experience.

Background: To explore the clinical phenotypic characteristics and genetic analysis of children with SCN2A gene mutation-related epilepsy.

Methods: A retrospective study of children with SCN2A gene mutation epilepsy admitted to the Department of Neurology of Hebei Provincial Children's Hospital from January 2020 to May 2023 was conducted to analyze their clinical characteristics, treatment response, and prognosis, and to explore the correlation between mutation type and efficacy.

Results: The age of onset of disease in the 12 children with SCN2A was distributed from 22 h after birth to 10 years and 11 months of age, the neonatal missense mutation was the most common, followed by nonsense mutation, the type of seizure was predominantly generalized tonic-clonic seizures(Generalized tonic-clonic seizures, GTCS), paraventricular white matter echo enhancement was the most common of the magnetic resonance image(Magnetic resonance image, MRI), and electroencephalogram(Electroencephalogram, EEG) were predominantly spiking and spiking-slow wave issuance in all phases of wakefulness and sleep, and there was a generalized developmental disorder in 11 cases; of the 12 cases of the children, the diagnosis of epilepsy was diagnosed in 3 cases, and levetiracetam(Levetiracetam, LEV) treatment was ineffective in all of them; epilepsy syndrome was diagnosed in 9 cases, of which 4 cases of Dravet syndrome(Dravet syndrome, DS) had the highest number of cases, and LEV and valproate(Valproate, VPA) were effective in 50% of the children, and multiple medications were ineffective in the remaining 2 cases; 2 children with west syndrome(West syndrome, WS) were ineffective in the administration of topiramate(Topiramate, TPM), clonazepam(Clonazepam, CZP), and pro-adrenocorticotropic hormone, All have global developmental delays; 2 cases of ohtahara syndrome(Ohtahara syndrome, OS), 1 case of phenobarbital(Phenobarbital, PB) treatment was effective, 1 case was ineffective in multiple drug treatment; 1 case of self-limited epilepsy with centrotemporal spikes(self-limited epilepsy with centrotemporal spikes, SeLECTS) with normal development of central temporal spikes, LEV could control seizures.

Conclusion: Cases of refractory epilepsy in infancy and young children with autism and abnormal paraventricular white matter on magnetic resonance imaging should be vigilant of SCN2A gene mutations. The degree of epilepsy control cannot be predicted based on the type of gene mutation, and treatment with LEV, VPA, and PB can achieve therapeutic effects in controlling epilepsy.