{Reference Type}: Case Reports
{Title}: Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.
{Author}: Parfyonov M;Ivaniuk A;Parikh S;Pestana-Knight E;
{Journal}: Epileptic Disord
{Volume}: 25
{Issue}: 4
{Year}: 2023 Aug 9
{Factor}: 2.333
{DOI}: 10.1002/epd2.20086
{Abstract}: Mutations in the ATP1A3 gene have been associated with several syndromes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. In this clinical commentary, we report a 2-year-old female patient with de novo pathogenic variant in the ATP1A3 gene associated with an early-onset form of epilepsy with eyelid myoclonia. The patient had frequent eyelid myoclonia occurring 20-30 times per day, without loss of awareness or other motor manifestations. EEG showed generalized polyspikes and spike-and-wave complexes maximal in the bifrontal regions, with prominent eye closure sensitivity. A sequencing-based epilepsy gene panel revealed a de novo pathogenic heterozygous variant in ATP1A3. The patient showed some response to flunarizine and clonazepam. This case highlights the importance of considering ATP1A3 mutations in the differential diagnosis of early-onset epilepsy with eyelid myoclonia and the potential benefit of flunarizine in improving language and coordination development in patients with ATP1A3-related disorders.