(Q48197553)

9 February 2018

title

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

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9 February 2018

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Iori Ohmori

1

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9 February 2018

Yoko Ohtsuka

2

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9 February 2018

Mamoru Ouchida

3

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9 February 2018

Tatsuya Ogino

4

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9 February 2018

Satoshi Maniwa

5

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9 February 2018

Kenji Shimizu

6

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9 February 2018

Eiji Oka

7

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9 February 2018

publication date

1 October 2003

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9 February 2018

published in

Brain and Development

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9 February 2018

volume

25

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9 February 2018

issue

7

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9 February 2018

page(s)

488-493

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9 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900038-X

7 January 2021

10.1016/S0387-7604(03)00038-X

Identifiers

DOI

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9 February 2018

PubMed ID

13129592

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9 February 2018