(Q57529937)

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Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

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Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy (English)

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1 reference

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Davide Mei

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Renzo Guerrini

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4

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Renzo Guerrini

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Helen Cross

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3

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J. Helen Cross

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author name string

Carla Marini

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1

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publication date

October 2006

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published in

Epilepsia

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volume

47

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issue

10

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page(s)

1737-1740

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cites work

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

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

retrieved

21 January 2018

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

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reference URL

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

retrieved

21 January 2018

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

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

retrieved

21 January 2018

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

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21 January 2018

SCN1A mutations and epilepsy

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

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21 January 2018

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

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21 January 2018

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

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reference URL

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

retrieved

21 January 2018

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

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reference URL

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

retrieved

21 January 2018

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

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

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21 January 2018

Mechanisms and consequences of somatic mosaicism in humans

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

retrieved

21 January 2018

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00675.X

retrieved

21 January 2018

Identifiers

DOI

10.1111/J.1528-1167.2006.00675.X

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PubMed ID

17054697

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(Q57529937)

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

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