SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. (Q43757795)

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9 January 2020

title

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus (English)

1 reference

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generalized epilepsy with febrile seizures plus

9 January 2020

main subject

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author

Yuehua Zhang

2

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9 January 2020

author name string

Huihui Sun

1

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9 January 2020

Jianmin Liang

3

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9 January 2020

Xiaoyan Liu

4

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9 January 2020

Xiuwei Ma

5

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9 January 2020

Husheng Wu

6

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9 January 2020

Keming Xu

7

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9 January 2020

Jiong Qin

8

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9 January 2020

Yu Qi

9

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9 January 2020

Xiru Wu

10

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9 January 2020

publication date

20 June 2008

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Journal of Human Genetics

9 January 2020

published in

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9 January 2020

volume

53

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9 January 2020

issue

8

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9 January 2020

page(s)

769-774

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https://scigraph.springernature.com/pub.10.1007/s10038-008-0306-y

9 January 2020

exact match

0 references

cites work

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0306-Y

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0306-Y

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0306-Y

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

21 January 2018

1 reference

12 December 2020

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

1 reference

12 December 2020

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

1 reference

12 December 2020

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

1 reference

12 December 2020

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

1 reference

12 December 2020

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

1 reference

12 December 2020

SCN1A mutations and epilepsy

1 reference

12 December 2020

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

12 December 2020

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

1 reference

12 December 2020

Na channel gene mutations in epilepsy--the functional consequences

1 reference

12 December 2020

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

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12 December 2020

Molecular basis of an inherited epilepsy

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12 December 2020

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

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12 December 2020

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

1 reference

12 December 2020

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

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12 December 2020

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

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12 December 2020

A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

1 reference

12 December 2020

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

1 reference

12 December 2020

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

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12 December 2020

The spectrum of SCN1A-related infantile epileptic encephalopathies

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12 December 2020

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

12 December 2020

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

12 December 2020

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

12 December 2020

A novel GABRG2 mutation associated with febrile seizures

1 reference

12 December 2020

Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus)

1 reference

12 December 2020