Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. (Q40447546)

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31 December 2019

title

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities (English)

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31 December 2019

2

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31 December 2019

Evan Reid

13

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31 December 2019

Roberto Michelucci

14

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31 December 2019

Federico Sicca

15

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31 December 2019

Anna Rita Ferrari

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31 December 2019

17

Renzo Guerrini

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31 December 2019

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Helen J Cross

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31 December 2019

5

Daniela Buti

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31 December 2019

author name string

Carla Marini

1

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31 December 2019

Teresa Temudo

3

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31 December 2019

Charlotte Dravet

6

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31 December 2019

Ana I Dias

7

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31 December 2019

Ana Moreira

8

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31 December 2019

Eulalia Calado

9

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Stefano Seri

10

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31 December 2019

Brian Neville

11

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31 December 2019

Juan Narbona

12

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31 December 2019

language of work or name

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11 June 2007

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31 December 2019

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31 December 2019

volume

48

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31 December 2019

page(s)

1678-1685

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31 December 2019

issue

9

1 reference

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

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.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.1528-1167.2007.01122.X

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

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)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Severe myoclonic epilepsy in infants--a review based on the Tokyo Women's Medical University series of 84 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.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.1528-1167.2007.01122.X

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01122.X