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Literature DB >> 20236112

De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy.

S Franciosi¹.

Abstract

Entities: Disease Gene

Year: 2010 PMID： 20236112 DOI： 10.1111/j.1399-0004.2010.01396_3.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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2 in total

1. Clinical application of exome sequencing in undiagnosed genetic conditions.

Authors: Anna C Need; Vandana Shashi; Yuki Hitomi; Kelly Schoch; Kevin V Shianna; Marie T McDonald; Miriam H Meisler; David B Goldstein
Journal: J Med Genet Date: 2012-05-11 Impact factor: 6.318

2. Differential roles of Na_V1.2 and Na_V1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.

Authors: Mingyu Ye; Jun Yang; Cuiping Tian; Qiyu Zhu; Luping Yin; Shan Jiang; Mingpo Yang; Yousheng Shu
Journal: Sci Rep Date: 2018-01-15 Impact factor: 4.379

2 in total

De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy.

1. Clinical application of exome sequencing in undiagnosed genetic conditions.

2. Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.

2. Differential roles of Na_V1.2 and Na_V1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.