(Q22253421)

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

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

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sodium voltage-gated channel alpha subunit 1

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GOA release 2020-03-11

sodium ion transport

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GOA release 2020-03-11

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7

object named as

Alexis Brice

author given names

Alexis

author last names

Brice

1 reference

Dimensions Publication ID

6 February 2023

Stéphanie Baulac

object named as

S Baulac

4

author given names

Stéphanie

author last names

Baulac

1 reference

Dimensions Publication ID

6 February 2023

author name string

A Escayg

1

author given names

Andrew

author last names

Escayg

1 reference

Dimensions Publication ID

6 February 2023

B T MacDonald

2

author given names

Bryan T.

author last names

MacDonald

1 reference

Dimensions Publication ID

6 February 2023

M H Meisler

3

author given names

Miriam H.

author last names

Meisler

1 reference

Dimensions Publication ID

6 February 2023

G Huberfeld

5

author given names

Gilles

author last names

Huberfeld

1 reference

Dimensions Publication ID

6 February 2023

I An-Gourfinkel

6

author given names

Isabelle

author last names

An-Gourfinkel

1 reference

Dimensions Publication ID

6 February 2023

E LeGuern

8

author given names

Eric

author last names

LeGuern

1 reference

Dimensions Publication ID

6 February 2023

B Moulard

9

author given names

Bruno

author last names

Moulard

1 reference

Dimensions Publication ID

6 February 2023

D Chaigne

10

author given names

Denys

author last names

Chaigne

1 reference

Dimensions Publication ID

6 February 2023

C Buresi

11

author given names

Catherine

author last names

Buresi

1 reference

Dimensions Publication ID

6 February 2023

A Malafosse

12

author given names

Alain

author last names

Malafosse

1 reference

Dimensions Publication ID

6 February 2023

language of work or name

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publication date

April 2000

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Nature Genetics

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24

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4

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343-5

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

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

Evolution and diversity of mammalian sodium channel genes

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and function of sodium channel

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional analysis of the rat I sodium channel in xenopus oocytes.

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

Movement of voltage sensor S4 in domain 4 is tightly coupled to sodium channel fast inactivation and gating charge immobilization

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotype variation and newcomers in ion channel disorders

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

Voltage-gated ion channels and hereditary disease

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F74159

7 January 2021

based on heuristic

inferred from DOI database lookup

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