ArticleJournal of medical case reports2026
Refractory focal seizures occurred in clusters in a girl with a de novo mutation of the ATP6V0A1 gene: a case report.
Article in Journal of medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundVariants 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).
conclusionsWe 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.
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