SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases (Q64227402)

2

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Hong-Yu Long

3

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Xiang-Min Li

4

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Li-Li Long

5

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Luo Zhou

6

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Wen-Ping Gu

7

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Shao-Hua Lu

8

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Qiang Qu

9

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Li-Min Yang

10

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Bo Xiao

11

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Jian Qu

The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy.

12

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language of work or name

English

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publication date

March 2019

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published in

Medicine

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volume

98

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issue

13

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page(s)

e14974

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cites work

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

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Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture

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Temporal lobe epilepsy and GEFS phenotypes associated with SCN1B mutations.

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The spectrum of SCN1A-related infantile epileptic encephalopathies

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An emerging role for voltage-gated Na channels in cellular migration: regulation of central nervous system development and potentiation of invasive cancers

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A functional null mutation of SCN1B in a patient with Dravet syndrome

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Endothelial nitric oxide synthase and nicotinamide adenosine dinucleotide phosphate oxidase p22phox gene (C242T) polymorphisms and systemic lupus erythematosus in a Chinese Population

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Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.

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New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures

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The core Dravet syndrome phenotype

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Dravet syndrome history

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Na channel Scn1b gene regulates dorsal root ganglion nociceptor excitability in vivo

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A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome

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Do mutations in SCN1B cause Dravet syndrome?

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A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

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Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

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Regulation of Cu-Zn superoxide dismutase on SCN2A in SH-SY5Y cells as a potential therapy for temporal lobe epilepsy

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The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.

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Calgary score and modified Calgary score in the differential diagnosis between neurally mediated syncope and epilepsy in children

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Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.

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SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

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Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.

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ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

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Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome.

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A mutation in GABRB3 associated with Dravet syndrome.

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Trafficking and localisation to the plasma membrane of Nav 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.

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Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy

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Dravet syndrome with SCN1B gene mutation: A rare entity

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Dravet syndrome and its mimics: Beyond SCN1A.

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Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS ) and idiopathic generalized epilepsy (IGE).

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