(Q24536353)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

title

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

generalized epilepsy with febrile seizures plus

5 November 2019

main subject

0 references

author

Robyn Wallace

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

Ingrid Scheffer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

Samuel Berkovic

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

5

L Dibbens

2 references

ORCID Public Data File 2021

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

8

D Lev

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

11

B Ben-Zeev

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

7

T Lerman-Sagie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

author name string

S Barnett

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

M Richards

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

R R Desai

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

A Mazarib

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

N Brand

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

I Goikhman

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

R Singh

13

1 reference

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5 November 2019

G Kremmidiotis

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

A Gardner

15

1 reference

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5 November 2019

G R Sutherland

16

1 reference

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5 November 2019

A L George

17

1 reference

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5 November 2019

J C Mulley

18

1 reference

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5 November 2019

language of work or name

English

0 references

publication date

13 March 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

5 November 2019

published in

1 reference

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5 November 2019

volume

68

1 reference

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5 November 2019

issue

4

1 reference

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5 November 2019

page(s)

859-865

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

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

5 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

Evolution and diversity of mammalian sodium channel genes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

Molecular mechanism for an inherited cardiac arrhythmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275639

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11254444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Locus for febrile seizures

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11254444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11254444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/319516

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254444 AND SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

11254444

1 reference