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

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.

Keywords

ATP1A3 - mutation - early life epilepsy - apnea

• References

• 1 Heinzen EL, Arzimanoglou A, Brashear A. , et al; ATP1A3 Working Group. Distinct neurological disorders with ATP1A3 mutations. Lancet Neurol 2014; 13 (05) 503-514
• 2 Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. Pediatr Neurol 2015; 52 (01) 56-64
• 3 Paciorkowski AR, McDaniel SS, Jansen LA. , et al. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia 2015; 56 (03) 422-430
• 4 Brashear A, Ozelius LJ, Sweadner KJ. ATP1A3 mutations: what is the phenotype?. Neurology 2014; 82 (06) 468-469
• 5 Suhail M. Na, K-ATPase: ubiquitous multifunctional transmembrane protein and its relevance to various pathophysiological conditions. J Clin Med Res 2010; 2 (01) 1-17
• 6 Dobretsov M, Stimers JR. Neuronal function and alpha3 isoform of the Na/K-ATPase. Front Biosci 2005; 10: 2373-2396
• 7 Sasaki M, Ishii A, Saito Y. , et al. Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology 2014; 82 (06) 482-490
• 8 Golumbek PT, Rho JM, Spain WJ, van Brederode JF. Effects of flunarizine on spontaneous synaptic currents in rat neocortex. Naunyn Schmiedebergs Arch Pharmacol 2004; 370 (03) 176-182
• 9 Pledger GW, Sackellares JC, Treiman DM. , et al. Flunarizine for treatment of partial seizures: results of a concentration-controlled trial. Neurology 1994; 44 (10) 1830-1836