(Q28240097)

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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)

scientific article (publication date: February 2004)

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17 November 2019

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) (English)

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17 November 2019

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myoclonic epilepsy

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Shinichi Hirose

17

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17 November 2019

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Goryu Fukuma

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17 November 2019

Hirokazu Oguni

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17 November 2019

Yukiyoshi Shirasaka

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17 November 2019

Kazuyoshi Watanabe

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17 November 2019

Tasuku Miyajima

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17 November 2019

Sawa Yasumoto

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17 November 2019

Masaharu Ohfu

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17 November 2019

Takahito Inoue

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17 November 2019

Aruchalean Watanachai

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17 November 2019

Ryutaro Kira

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17 November 2019

Muneaki Matsuo

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17 November 2019

Hideki Muranaka

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17 November 2019

Fumiko Sofue

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17 November 2019

Bo Zhang

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17 November 2019

Sunao Kaneko

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17 November 2019

Akihisa Mitsudome

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17 November 2019

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1 February 2004

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17 November 2019

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17 November 2019

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17 November 2019

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17 November 2019

140-148

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17 November 2019

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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/10.1111/J.0013-9580.2004.15103.X

20 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.15103.X

20 April 2017

Genetics of epilepsy: current status and perspectives.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.15103.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.15103.X

21 January 2018

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.15103.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.15103.X

21 January 2018

Genetic abnormalities underlying familial epilepsy syndromes.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.15103.X

21 January 2018

Nomenclature for the description of human sequence variations

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.15103.X

21 January 2018

Identifiers

10.1111/J.0013-9580.2004.15103.X

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17 November 2019

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24 November 2022

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17 November 2019

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