(Q48793570)

15 February 2018

title

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. (English)

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15 February 2018

familial partial epilepsy

main subject

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Y-W Shi

1

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15 February 2018

M-J Yu

2

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15 February 2018

Y-S Long

3

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15 February 2018

B Qin

4

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15 February 2018

N He

5

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15 February 2018

H Meng

6

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15 February 2018

X-R Liu

7

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15 February 2018

W-Y Deng

8

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15 February 2018

M-M Gao

9

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15 February 2018

Y-H Yi

10

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15 February 2018

B-M Li

11

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15 February 2018

W-P Liao

12

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15 February 2018

language of work or name

English

0 references

publication date

14 December 2011

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15 February 2018

Genes, Brain and Behavior

published in

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15 February 2018

volume

11

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15 February 2018

issue

2

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15 February 2018

page(s)

170-176

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15 February 2018

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Parental SCN1A mutation mosaicism in familial Dravet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2011.00756.X

10.1111/J.1601-183X.2011.00756.X

21 January 2018

Identifiers

DOI

1 reference

15 February 2018

1 reference

15 February 2018