Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review

Neuropediatrics
Thouraya Ben YounesIlhem Ben Youssef-Turki

Abstract

ATP1A3 mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to ATP1A3 mutation in a Tunisian child.

Citations

May 24, 2020·International Journal of Molecular Sciences·Giacomo GaroneFrancesco Nicita
Jan 22, 2020·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Marius GasserCelina von Stülpnagel
Sep 1, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Anna Duat RodriguezNelmar Valentina Ortiz Cabrera

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