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

Thouraya Ben Younes; Hanene Benrhouma; Hedia Klaa; Aida Rouissi; Myriam Chaabouni; Ichraf Kraoua; Ilhem Ben Youssef-Turki

doi:10.1055/s-0038-1667024

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2018; 49(05): 339-341
DOI: 10.1055/s-0038-1667024

Short Communication

Georg Thieme Verlag KG Stuttgart · New York

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

Autor*innen

Thouraya Ben Younes

¹Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
Hanene Benrhouma

¹Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia

²Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
Hedia Klaa

¹Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia

²Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
Aida Rouissi

¹Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia

²Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
Myriam Chaabouni

²Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia

³Laboratory of Medical Analyzes and Human Genetics, Jasmins Medical Center, Tunis, Tunisia
Ichraf Kraoua

¹Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia

²Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
Ilhem Ben Youssef-Turki

¹Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia

²Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia

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

Volltext

Referenzen

References
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