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

被引：9

作者：

Ben Younes, Thouraya ^{[1
,2
]}

Benrhouma, Hanene ^{[1
,2
,3
]}

Klaa, Hedia ^{[1
,2
,3
]}

Rouissi, Aida ^{[1
,2
,3
]}

Chaabouni, Myriam ^{[3
,4
]}

Kraoua, Ichraf ^{[1
,2
,3
]}

Ben Youssef-Turki, Ilhem ^{[1
,2
,3
]}

机构：

[1] Natl Inst Mongi Ben Hmida Neurol, Res Unit UR12 SP24, Tunis, Tunisia

[2] Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, Tunisia

[3] Univ Tunis El Manar, Fac Med Tunis, Tunis, Tunisia

[4] Jasmins Med Ctr, Lab Med Anal & Human Genet, Tunis, Tunisia

来源：

NEUROPEDIATRICS | 2018年 / 49卷 / 05期

关键词：

ATP1A3; mutation; early life epilepsy; apnea; ALTERNATING HEMIPLEGIA; FLUNARIZINE; PHENOTYPE; CHILDHOOD;

D O I：

10.1055/s-0038-1667024

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：339 / 341

页数：3

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