Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3

Author:

Parfyonov Maksim1ORCID,Ivaniuk Alina1,Parikh Sumit2,Pestana‐Knight Elia1

Affiliation:

1. Epilepsy Center, Neurological Institute Cleveland Clinic Cleveland Ohio USA

2. Neurometabolism & Neurogenetics Cleveland Clinic Cleveland Ohio USA

Abstract

AbstractMutations 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.

Publisher

Wiley

Subject

Neurology (clinical),Neurology,General Medicine

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