(Q45738729)

15 December 2017

title

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus (English)

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15 December 2017

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phenotypic heterogeneity

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10

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15 December 2017

Hadassa Goldberg-Stern

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object named as

Hadassa Goldberg-Stern

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15 December 2017

7

Gregor Kuhlenbäumer

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15 December 2017

8

Lina Basel-Vanagaite

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Silke Appenzeller

object named as

Silke Appenzeller

5

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author name string

Sharon Aharoni

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15 December 2017

Zaid Afawi

3

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15 December 2017

Odeya Bennett

4

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15 December 2017

Manuela Pendziwiat

6

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Avinoam Shuper

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Ingo Helbig

11

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publication date

20 November 2013

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Journal of Child Neurology

15 December 2017

published in

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15 December 2017

volume

29

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15 December 2017

issue

2

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15 December 2017

page(s)

221-226

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Molecular genetics of Dravet syndrome

15 December 2017

cites work

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https://api.crossref.org/works/10.1177%2F0883073813509016

Clinical spectrum of SCN1A mutations.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073813509016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

The spectrum of SCN1A-related infantile epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

Susceptibility genes for complex epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

Sodium channel SCN1A and epilepsy: mutations and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813509016

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073813509016

21 January 2018

Identifiers

DOI

10.1177/0883073813509016

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15 December 2017

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