Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy (Q74361012)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12083760%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

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

1 reference

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10 November 2019

1 reference

1 reference

Iori Ohmori

1

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10 November 2019

Mamoru Ouchida

2

1 reference

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10 November 2019

Yoko Ohtsuka

3

1 reference

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10 November 2019

Eiji Oka

4

1 reference

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10 November 2019

Kenji Shimizu

5

1 reference

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10 November 2019

publication date

1 July 2002

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Biochemical and Biophysical Research Communications

10 November 2019

published in

1 reference

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10 November 2019

volume

295

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10 November 2019

issue

1

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10 November 2019

page(s)

17-23

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

10 November 2019

cites work

1 reference

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

7 January 2021

2 references

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

Molecular basis of charge movement in voltage-gated sodium channels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900617-4

10.1016/S0006-291X(02)00617-4

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12083760%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference