{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:44:15Z","timestamp":1777941855632,"version":"3.51.4"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          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.<\/jats:p>","DOI":"10.1055\/s-0038-1667024","type":"journal-article","created":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T18:39:56Z","timestamp":1531766396000},"page":"339-341","source":"Crossref","is-referenced-by-count":7,"title":["Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review"],"prefix":"10.1055","volume":"49","author":[{"given":"Hanene","family":"Benrhouma","sequence":"first","affiliation":[{"name":"Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia"},{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hedia","family":"Klaa","sequence":"first","affiliation":[{"name":"Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia"},{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Rouissi","sequence":"first","affiliation":[{"name":"Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia"},{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Chaabouni","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisia"},{"name":"Laboratory of Medical Analyzes and Human Genetics, Jasmins Medical Center, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichraf","family":"Kraoua","sequence":"first","affiliation":[{"name":"Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia"},{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilhem","family":"Youssef-Turki","sequence":"first","affiliation":[{"name":"Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia"},{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thouraya","family":"Younes","sequence":"additional","affiliation":[{"name":"Research Unit UR12 SP24 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,7,16]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1667024.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T18:51:55Z","timestamp":1536173515000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1667024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,16]]},"references-count":0,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2018,9,5]]},"published-print":{"date-parts":[[2018,10]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1667024","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,16]]}}}