Publications:

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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: A748V

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CACNA1H: A748V

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CACNA1H: 2243C>T; Ala748Val; rs770371468

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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CACNA1H variants are not a cause of monogenic epilepsy.

Human Mutation

Calhoun, Jeffrey D JD; Huffman, Alexandra M AM; Bellinski, Irena I; Kinsley, Lisa L; Bachman, Elizabeth E; Gerard, Elizabeth E; Kearney, Jennifer A JA; Carvill, Gemma L GL

Publication Date: 2020-06

Variant appearance in text: CACNA1H: 2243C>T

PubMed Link: 32227660

Variant Present in the following documents:

• Main text

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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: A748V

PubMed Link: 31217264

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106163.pdf

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: CACNA1H: A748V

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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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: A748V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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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: A748V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: A748V

PubMed Link: 21099341

Variant Present in the following documents:

• Main text

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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: A748V

PubMed Link: 17215393

Variant Present in the following documents:

• Main text

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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: A748V

PubMed Link: 15888660

Variant Present in the following documents:

• Main text

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