Literature DB >> 28088730

Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation.

Xiaoping Du1, You Chen2, Yongxiong Zhao1, Wei Luo2, Zhidong Cen3, Weicheng Hao4.   

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Year:  2017        PMID: 28088730     DOI: 10.1016/j.seizure.2016.12.020

Source DB:  PubMed          Journal:  Seizure        ISSN: 1059-1311            Impact factor:   3.184


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  5 in total

1.  Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.

Authors:  Wanhao Chi; Atulya S R Iyengar; Monique Albersen; Marjolein Bosma; Nanda M Verhoeven-Duif; Chun-Fang Wu; Xiaoxi Zhuang
Journal:  Hum Mol Genet       Date:  2019-09-15       Impact factor: 6.150

Review 2.  The electrophysiological footprint of CACNA1A disorders.

Authors:  Elisabetta Indelicato; Iris Unterberger; Wolfgang Nachbauer; Andreas Eigentler; Matthias Amprosi; Fiona Zeiner; Edda Haberlandt; Manuela Kaml; Elke Gizewski; Sylvia Boesch
Journal:  J Neurol       Date:  2021-02-05       Impact factor: 4.849

3.  Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene.

Authors:  Kinga Gawel; Waldemar A Turski; Wietske van der Ent; Benan J Mathai; Karolina J Kirstein-Smardzewska; Anne Simonsen; Camila V Esguerra
Journal:  Mol Neurobiol       Date:  2019-12-26       Impact factor: 5.590

4.  Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.

Authors:  Elham Alehabib; Zahra Esmaeilizadeh; Sakineh Ranji-Burachaloo; Abbas Tafakhori; Hossein Darvish; Abolfazl Movafagh
Journal:  Orphanet J Rare Dis       Date:  2021-11-02       Impact factor: 4.123

5.  CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.

Authors:  Xue-Lian Li; Zong-Jun Li; Xiao-Yu Liang; De-Tian Liu; Mi Jiang; Liang-Di Gao; Huan Li; Xue-Qing Tang; Yi-Wu Shi; Bing-Mei Li; Na He; Bin Li; Wen-Jun Bian; Yong-Hong Yi; Chuan-Fang Cheng; Jie Wang
Journal:  Front Mol Neurosci       Date:  2022-05-04       Impact factor: 5.639

  5 in total

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