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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

Thouraya Ben Younes
1   Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
,
Hanene Benrhouma
1   Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
2   Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
,
Hedia Klaa
1   Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
2   Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
,
Aida Rouissi
1   Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
2   Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
,
Myriam Chaabouni
2   Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
3   Laboratory of Medical Analyzes and Human Genetics, Jasmins Medical Center, Tunis, Tunisia
,
Ichraf Kraoua
1   Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
2   Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
,
Ilhem Ben Youssef-Turki
1   Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
2   Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia
› Author Affiliations
Further Information

Publication History

26 February 2018

04 June 2018

Publication Date:
16 July 2018 (online)

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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
 

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