Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (Q42658858)

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1 February 2020

title

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome (English)

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1 February 2020

2

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1 February 2020

author name string

Huihui Sun

1

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1 February 2020

Xiaoyan Liu

3

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1 February 2020

Xiuwei Ma

4

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1 February 2020

Zhixian Yang

5

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1 February 2020

Jiong Qin

6

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1 February 2020

Yuwu Jiang

7

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1 February 2020

Yu Qi

8

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1 February 2020

Xiru Wu

9

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publication date

30 April 2010

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Journal of Human Genetics

1 February 2020

published in

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1 February 2020

volume

55

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1 February 2020

issue

7

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1 February 2020

page(s)

421-427

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Dravet syndrome: a study of 53 patients

1 February 2020

cites work

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Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

21 January 2018

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

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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

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The spectrum of SCN1A-related infantile epileptic encephalopathies

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A catalog of SCN1A variants

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Fever, genes, and epilepsy

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

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SCN1A mutations and epilepsy

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Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

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Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

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

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

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Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

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Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

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The origins, patterns and implications of human spontaneous mutation

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Exclusive paternal origin of new mutations in Apert syndrome

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Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

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Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

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De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

21 January 2018

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

21 January 2018

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7 January 2021

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

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7 January 2021

Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients

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7 January 2021

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

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7 January 2021

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

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7 January 2021

Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy

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7 January 2021

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

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7 January 2021