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

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 -related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to mutation in a Tunisian child.

Georg Thieme Verlag KG Stuttgart · New York.