A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family (Q84769430)

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10 February 2020

title

A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family (English)

1 reference

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generalized epilepsy with febrile seizures plus

10 February 2020

main subject

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3

Ying Liu

1 reference

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10 February 2020

author name string

Xiukun Cui

1

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10 February 2020

Feng Zeng

2

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10 February 2020

Jing Zhang

4

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10 February 2020

Stephen Archacki

5

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10 February 2020

Tailan Zhan

6

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10 February 2020

Rong Du

7

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10 February 2020

Zhaohui Tang

8

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10 February 2020

Jingyu Liu

9

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10 February 2020

Mugen Liu

11

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10 February 2020

Qing K. Wang

10

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9 December 2024

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21843600

9 December 2024

publication date

6 August 2011

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full work available at URL

10 February 2020

https://api.elsevier.com/content/article/PII:S0304394011011475?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.NEULET.2011.08.001

https://api.elsevier.com/content/article/PII:S0304394011011475?httpAccept=text/plain

9 December 2024

1 reference

https://api.crossref.org/works/10.1016/J.NEULET.2011.08.001

9 December 2024

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10 February 2020

volume

503

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issue

1

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page(s)

27-30

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

10 February 2020

cites work

1

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Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

9 December 2024

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

9 December 2024

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Intractable epilepsy: definition and neurobiology

9 December 2024

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

9 December 2024

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

9 December 2024

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Mutations of neuronal voltage-gated Na channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

9 December 2024

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Clinical spectrum of SCN1A mutations.

9 December 2024

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Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

9 December 2024

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A screening test for the prediction of Dravet syndrome before one year of age

9 December 2024

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Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

9 December 2024

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

9 December 2024

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Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

9 December 2024

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Severe myoclonic epilepsy of infancy: extended spectrum of GEFS ?

9 December 2024

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Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

9 December 2024

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The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online

9 December 2024

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Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

9 December 2024

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Radicals r'aging

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9 December 2024

Identifiers

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10 February 2020

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