title: Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation.
authors.affiliation: Department of Neurology, West District of Second Affiliated Hospital, Shanxi Medical University, Taiyuan, Shanxi, 030000, China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Du
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310000, China.
authors.forename: You
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West District of Second Affiliated Hospital, Shanxi Medical University, Taiyuan, Shanxi, 030000, China.
authors.forename: Yongxiong
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310000, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.affiliation: Department of Pediatrics, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310000, China. Electronic address: cenzdferry@hotmail.com.
authors.forename: Zhidong
authors.initials: Z
authors.lastname: Cen
authors.affiliation: Department of Neurology, West District of Second Affiliated Hospital, Shanxi Medical University, Taiyuan, Shanxi, 030000, China. Electronic address: hch3962@163.com.
authors.forename: Weicheng
authors.initials: W
authors.lastname: Hao
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000187:drug effects / Q000503:physiopathology; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D000069279:Drug Resistant Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011736:Pyridoxine / Q000627:therapeutic use; D020864:Calcium Channels, N-Type
chemical_list: D000927:Anticonvulsants; D015220:Calcium Channels; D011736:Pyridoxine; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type