CACNA1H c.1367G>C ;(p.C456S)

Variant ID: 16-1251817-G-C

NM_021098.2(CACNA1H):c.1367G>C;(p.C456S)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)
Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G
Publication Date: 2022-09-01

Variant appearance in text: Cav3.2: C456S
PubMed Link: 36102617
Variant Present in the following documents:
  • develop-149-198853-s1.pdf
View BVdb publication page



Neuronal Cav3 channelopathies: recent progress and perspectives.

Pflugers Archiv : European Journal Of Physiology
Lory, Philippe P; Nicole, Sophie S; Monteil, Arnaud A
Publication Date: 2020-07

Variant appearance in text: Cav3.2: Cys456Ser
PubMed Link: 32638069
Variant Present in the following documents:
  • Main text
  • 424_2020_Article_2429.pdf
View BVdb publication page



Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures.

Brain : A Journal Of Neurology
Crunelli, Vincenzo V; Lőrincz, Magor L ML; McCafferty, Cian C; Lambert, Régis C RC; Leresche, Nathalie N; Di Giovanni, Giuseppe G; David, François F
Publication Date: 2020-08-01

Variant appearance in text: CACNA1H: C456S
PubMed Link: 32437558
Variant Present in the following documents:
  • Main text
  • awaa072.pdf
View BVdb publication page



Genetic T-type calcium channelopathies.

Journal Of Medical Genetics
Weiss, Norbert N; Zamponi, Gerald W GW
Publication Date: 2020-01

Variant appearance in text: CACNA1H: C456S
PubMed Link: 31217264
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106163.pdf
View BVdb publication page



Out of thin air: Hyperventilation-triggered seizures.

Brain Research
Salvati, Kathryn A KA; Beenhakker, Mark P MP
Publication Date: 2019-01-15

Variant appearance in text: CACNA1H: C456S
PubMed Link: 29288644
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: CACNA1H: C456S
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Criminal Minds: Cav3.2 Channels Are the Culprits, but NMDAR Are the Co-Conspirators.

Epilepsy Currents
Ha, Huong H; Huguenard, John J
Publication Date: 2016

Variant appearance in text: Cav3.2: C456S
PubMed Link: 26900377
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of Calcium Channels in Epilepsy.

Cold Spring Harbor Perspectives In Medicine
Rajakulendran, Sanjeev S; Hanna, Michael G MG
Publication Date: 2016-01-04

Variant appearance in text: CACNA1H: C456S
PubMed Link: 26729757
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylation of the Cav3.2 T-type calcium channel directly regulates its gating properties.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Blesneac, Iulia I; Chemin, Jean J; Bidaud, Isabelle I; Huc-Brandt, Sylvaine S; Vandermoere, Franck F; Lory, Philippe P
Publication Date: 2015-11-03

Variant appearance in text: Cav3.2: C456S
PubMed Link: 26483470
Variant Present in the following documents:
  • Main text
View BVdb publication page



CaV3.2 calcium channels control NMDA receptor-mediated transmission: a new mechanism for absence epilepsy.

Genes & Development
Wang, Guangfu G; Bochorishvili, Genrieta G; Chen, Yucai Y; Salvati, Kathryn A KA; Zhang, Peng P; Dubel, Steve J SJ; Perez-Reyes, Edward E; Snutch, Terrance P TP; Stornetta, Ruth L RL; Deisseroth, Karl K; Erisir, Alev A; Todorovic, Slobodan M SM; Luo, Jian-Hong JH; Kapur, Jaideep J; Beenhakker, Mark P MP; Zhu, J Julius JJ
Publication Date: 2015-07-15

Variant appearance in text: CACNA1H: C456S
PubMed Link: 26220996
Variant Present in the following documents:
  • Main text
  • 1535.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CACNA1H: C456S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The role of T-type calcium channel genes in absence seizures.

Frontiers In Neurology
Chen, Yucai Y; Parker, William Davis WD; Wang, Keling K
Publication Date: 2014

Variant appearance in text: Cav3.2: C456S
PubMed Link: 24847307
Variant Present in the following documents:
  • Main text
  • fneur-05-00045.pdf
View BVdb publication page



Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

The Journal Of Physiology
Eckle, Veit-Simon VS; Shcheglovitov, Aleksandr A; Vitko, Iuliia I; Dey, Deblina D; Yap, Chan Choo CC; Winckler, Bettina B; Perez-Reyes, Edward E
Publication Date: 2014-02-15

Variant appearance in text: CACNA1H: C456S
PubMed Link: 24277868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.

Channels (Austin, Tex.)
Perez-Reyes, Edward E
Publication Date: 2010

Variant appearance in text: CACNA1H: C456S
PubMed Link: 21099341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ionic mechanisms of endogenous bursting in CA3 hippocampal pyramidal neurons: a model study.

Plos One
Xu, Jun J; Clancy, Colleen E CE
Publication Date: 2008-04-30

Variant appearance in text: CACNA1H: C456S
PubMed Link: 18446231
Variant Present in the following documents:
  • Main text
  • pone.0002056.pdf
View BVdb publication page



The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Vitko, Iuliia I; Bidaud, Isabelle I; Arias, Juan Manuel JM; Mezghrani, Alexandre A; Lory, Philippe P; Perez-Reyes, Edward E
Publication Date: 2007-01-10

Variant appearance in text: CACNA1H: C456S
PubMed Link: 17215393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Vitko, Iuliia I; Chen, Yucai Y; Arias, Juan M JM; Shen, Yen Y; Wu, Xi-Ru XR; Perez-Reyes, Edward E
Publication Date: 2005-05-11

Variant appearance in text: CACNA1H: C456S
PubMed Link: 15888660
Variant Present in the following documents:
  • Main text
View BVdb publication page