Publications:

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Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Molecular Neurobiology

Maksemous, Neven N; Harder, Aster V E AVE; Ibrahim, Omar O; Vijfhuizen, Lisanne S LS; Sutherland, Heidi H; Pelzer, Nadine N; de Boer, Irene I; Terwindt, Gisela M GM; Lea, Rodney A RA; van den Maagdenberg, Arn M J M AMJM; Griffiths, Lyn R LR

Publication Date: 2023-02-14

Variant appearance in text: CACNA1H: 2626G>A; Ala876Thr; rs58173258

PubMed Link: 36786913

Variant Present in the following documents:

• 12035_2023_3255_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: CACNA1H: 2626G>A; A876T

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

View BVdb publication page

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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: 2626G>A

PubMed Link: 32227660

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports

Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC

Publication Date: 2019-07-18

Variant appearance in text: CACNA1H: A876T; rs58173258

PubMed Link: 31320741

Variant Present in the following documents:

• 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: A876T

PubMed Link: 31217264

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106163.pdf

View BVdb publication page

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An Improved Method for Modeling Voltage-Gated Ion Channels at Atomic Accuracy Applied to Human Cav Channels.

Cell Reports

Martinez-Ortiz, Wilnelly W; Cardozo, Timothy J TJ

Publication Date: 2018-05-01

Variant appearance in text: Cav3.2: A876T

PubMed Link: 29719253

Variant Present in the following documents:

• NIHMS965983-supplement-2.pdf
• NIHMS965983-supplement-1.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: CACNA1H: 2626G>A; A876T; rs58173258

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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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: A876T

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Case Reports In Genetics

Jacobsen, Jessie C JC; Glamuzina, Emma E; Taylor, Juliet J; Swan, Brendan B; Handisides, Shona S; Wilson, Callum C; Fietz, Michael M; van Dijk, Tessa T; Appelhof, Bart B; Hill, Rosamund R; Marks, Rosemary R; Love, Donald R DR; Robertson, Stephen P SP; Snell, Russell G RG; Lehnert, Klaus K

Publication Date: 2015

Variant appearance in text: CACNA1H: A876T; rs58173258

PubMed Link: 26587300

Variant Present in the following documents:

• Main text
• CRIG2015-454526.pdf

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs58173258

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CACNA1H: A876T; rs58173258

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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