Refractory focal seizures occurred in clusters in a girl with a de novo mutation of the ATP6V0A1 gene: a case report.

BACKGROUND

Variants in the ATP6V0A1 gene, which encodes the α1 subunit of the V0 domain of the V-ATPases, are associated with developmental and epileptic encephalopathy 104 (DEE104). This study aimed to characterize the clinical features of a Chinese patient with ATP6V0A1 variants and facilitate the early diagnosis and treatment.

CASE PRESENTATION: We report a case of a 13-month-old Chinese girl with DEE who presented with developmental delay, acute onset of clustered focal seizures, and status epilepticus. Physical examination revealed hypotonia and microcephaly. Brain MRI showed mildly enlarged bilateral lateral ventricles, a thin corpus callosum, and progressive cerebral atrophy. Genetic analysis identified a de novo missense mutation in the ATP6V0A1 gene (c.2222G > A, p.R741Q). While her epilepsy was refractory to multiple antiepileptic drugs, her seizures were controlled effectively with oxcarbazepine (OXC).

CONCLUSIONS

We identified a patient with DEE104 carrying a de novo ATP6V0A1 mutation, whose clinical presentation included developmental delay, clustered focal seizures, and status epilepticus. Our findings provide further support for considering OXC in the management of ATP6V0A1-related epilepsy.