Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.-论文-万方医学网

作者： Ali,Mir ^[1] ; Mohammed,Chaudhary ^[2] ; Hani,Alkhaldi ^[2] ; Rami,Alhazmi ^[3] ; Raidah,Albaradie ^[2] ; Yousef,Housawi ^[4]

作者单位： Pediatric Neurology Department, King Fahad Specialist Hospital, Dammam, Saudi Arabia. Electronic address: ali.mir@kfsh.med.sa. ^[1] Pediatric Neurology Department, King Fahad Specialist Hospital, Dammam, Saudi Arabia. ^[2] Medical Imaging Department, King Fahad Specialist Hospital, Dammam, Saudi Arabia. ^[3] Genetic and Metabolic Department, King Fahad Specialist Hospital, Dammam, Saudi Arabia. ^[4]

主题词抗惊厥药(Anticonvulsants);脑(Brain);卡马西平(Carbamazepine);小脑共济失调(Cerebellar Ataxia);儿童(Child);儿童, 学龄前(Child, Preschool);癫痫(Epilepsy);女(雌)性(Female);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);人类(Humans);婴儿(Infant);男(雄)性(Male);突变(Mutation);突变, 误义(Mutation, Missense);系谱(Pedigree);钾通道, 内向整流(Potassium Channels, Inwardly Rectifying);回顾性研究(Retrospective Studies);发作(Seizures);综合征(Syndrome);丙戊酸(Valproic Acid)

DOI 10.1016/j.braindev.2019.03.009

PMID 30952461

发布时间 2020-01-16

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Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.

Brain & development

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Brain & development

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Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.

Brain & development

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Brain & development

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