Literature DB >> 28065826

SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers.

Kathleen Mary Gorman1, Mary Dolores King2.   

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Year:  2016        PMID： 28065826     DOI： 10.1016/j.pediatrneurol.2016.11.008

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  4 in total

1.  Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.

Authors:  Zhefu Que; Maria I Olivero-Acosta; Jingliang Zhang; Muriel Eaton; Anke M Tukker; Xiaoling Chen; Jiaxiang Wu; Junkai Xie; Tiange Xiao; Kyle Wettschurack; Layan Yunis; J Marshall Shafer; James A Schaber; Jean-Christophe Rochet; Aaron B Bowman; Chongli Yuan; Zhuo Huang; Chang-Deng Hu; Darci J Trader; William C Skarnes; Yang Yang
Journal:  J Neurosci       Date:  2021-10-29       Impact factor: 6.709

2.  Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.

Authors:  Qi Huang; Lu Yu; Meigang Ma; Hengchang Qi; Yuan Wu
Journal:  Medicine (Baltimore)       Date:  2019-02       Impact factor: 1.889

3.  Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Authors:  Carlotta Spagnoli; Carlo Fusco; Antonio Percesepe; Vincenzo Leuzzi; Francesco Pisani
Journal:  Int J Mol Sci       Date:  2021-04-18       Impact factor: 5.923

Review 4.  Episodic Ataxias: Faux or Real?

Authors:  Paola Giunti; Elide Mantuano; Marina Frontali
Journal:  Int J Mol Sci       Date:  2020-09-05       Impact factor: 5.923
  4 in total

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