Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). (Q34432842)

2 August 2017

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title

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). (English)

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myoclonic astatic epilepsy

2 August 2017

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Scheffer IE

1

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2 August 2017

Wallace R

series ordinal

2

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2 August 2017

Mulley JC

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3

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2 August 2017

Berkovic SF

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4

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2 August 2017

1 November 2001

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2 August 2017

Brain and Development

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2 August 2017

23

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2 August 2017

7

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2 August 2017

732-735

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

2 August 2017

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

7 January 2021

Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

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7 January 2021

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

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7 January 2021

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

7 January 2021

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

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%2801%2900272-8

7 January 2021

Epidemiology of febrile and afebrile convulsions in children in Japan

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

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7 January 2021

Severe myoclonic epilepsy of infancy

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

7 January 2021

Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

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%2801%2900272-8

7 January 2021

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

7 January 2021

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

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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%2801%2900272-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

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%2801%2900272-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900272-8

7 January 2021

10.1016/S0387-7604(01)00272-8

Identifiers

DOI

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2 August 2017

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