(Q24540213)

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Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

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scholarly article

1 reference

Europe PubMed Central

6 July 2017

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia (English)

1 reference

Europe PubMed Central

6 July 2017

0 references

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generalized epilepsy

1 reference

based on heuristic

inferred from title

episodic ataxia

1 reference

based on heuristic

inferred from title

Delphine Bichet

object named as

D Bichet

4

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author name string

A Escayg

1

1 reference

Europe PubMed Central

6 July 2017

M De Waard

2

1 reference

Europe PubMed Central

6 July 2017

D D Lee

3

1 reference

Europe PubMed Central

6 July 2017

P Wolf

5

1 reference

Europe PubMed Central

6 July 2017

T Mayer

6

1 reference

Europe PubMed Central

6 July 2017

J Johnston

7

1 reference

Europe PubMed Central

6 July 2017

R Baloh

8

1 reference

Europe PubMed Central

6 July 2017

T Sander

9

1 reference

Europe PubMed Central

6 July 2017

M H Meisler

10

1 reference

Europe PubMed Central

6 July 2017

language of work or name

0 references

publication date

4 April 2000

1 reference

Europe PubMed Central

6 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

6 July 2017

66

1 reference

Europe PubMed Central

6 July 2017

1531-1539

1 reference

Europe PubMed Central

6 July 2017

5

1 reference

Europe PubMed Central

6 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

Radicals r'aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

A potassium channel mutation in neonatal human epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

Evolution and diversity of mammalian sodium channel genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

beta subunit reshuffling modifies N- and P/Q-type Ca2+ channel subunit compositions in lethargic mouse brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

Altered expression and assembly of N-type calcium channel alpha1B and beta subunits in epileptic lethargic (lh/lh) mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

The role of GABAB receptor activation in absence seizures of lethargic (lh/lh) mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Studies of the lethargic (lh/lh) mouse model of absence seizures: regulatory mechanisms and identification of the lh gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Voltage-dependent calcium channel mutations in neurological disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Emerging insights into the genesis of epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Current modulation and membrane targeting of the calcium channel alpha1C subunit are independent functions of the beta subunit.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Ion channel genes and human neurological disease: recent progress, prospects, and challenges.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Modelling of a voltage-dependent Ca2+ channel beta subunit as a basis for understanding its functional properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Multiple modulation pathways of calcium channel activity by a beta subunit. Direct evidence of beta subunit participation in membrane trafficking of the alpha1C subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

A Xenopus oocyte beta subunit: evidence for a role in the assembly/expression of voltage-gated calcium channels that is separate from its role as a regulatory subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

N-methyl-D-aspartate receptor-induced proteolytic conversion of postsynaptic class C L-type calcium channels in hippocampal neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Reflex seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Essential Ca(2+)-binding motif for Ca(2+)-sensitive inactivation of L-type Ca2+ channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

Modification of Ca2+ channel activity by deletions at the carboxyl terminus of the cardiac alpha 1 subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

30 May 2018

Ion channel mutations in mouse models of inherited neurological disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

30 May 2018

Subunit interaction sites in voltage-dependent Ca2+ channels: role in channel function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

30 May 2018

Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

30 May 2018

Subunit regulation of the neuronal alpha 1A Ca2+ channel expressed in Xenopus oocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

30 May 2018

Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

29 November 2018

Regulation of Ca-sensitive inactivation of a 1-type Ca2+ channel by specific domains of beta subunits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

29 November 2018

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378014

29 November 2018

Post-translational modifications of beta subunits of voltage-dependent calcium channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302909

7 January 2021

based on heuristic

inferred from DOI database lookup

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Europe PubMed Central

6 July 2017

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

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