(Q28186139)

8

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Stéphanie Baulac

object named as

S Baulac

1

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author name string

G Huberfeld

2

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I Gourfinkel-An

3

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G Mitropoulou

4

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A Beranger

5

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J F Prud'homme

6

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M Baulac

7

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R Bruzzone

9

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E LeGuern

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

10

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language of work or name

English

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publication date

May 2001

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published in

Nature Genetics

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volume

28

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issue

1

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page(s)

46-8

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cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

7 January 2021

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

7 January 2021

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

7 January 2021

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

An update on GABAA receptors

1 reference

7 January 2021

Structure and subunit composition of GABA(A) receptors.

1 reference

7 January 2021

Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome

1 reference

7 January 2021

Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33.

1 reference

7 January 2021

Role of the conserved lysine residue in the middle of the predicted extracellular loop between M2 and M3 in the GABA(A) receptor

1 reference

7 January 2021

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

1 reference

7 January 2021

Integration of endoplasmic reticulum signaling in health and disease

1 reference

7 January 2021

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

1 reference

7 January 2021

Functional messenger RNAs are produced by SP6in vitrotranscription of cloned cDNAs

1 reference

7 January 2021