Publications:

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Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.

Molecular Brain

Souza, Ivana A IA; Gandini, Maria A MA; Zamponi, Gerald W GW

Publication Date: 2021-09-20

Variant appearance in text: CACNA1H: R1584P

PubMed Link: 34544471

Variant Present in the following documents:

• Main text
• 13041_2021_Article_861.pdf

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Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Frontiers In Synaptic Neuroscience

Striessnig, Jörg J

Publication Date: 2021

Variant appearance in text: Cav3.2: R1584P

PubMed Link: 33746731

Variant Present in the following documents:

• Main text
• fnsyn-13-634760.pdf

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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: CACNA1H: Arg1584Pro

PubMed Link: 32638069

Variant Present in the following documents:

• Main text
• 424_2020_Article_2429.pdf

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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: R1584P

PubMed Link: 32227660

Variant Present in the following documents:

• Main text

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CaV 3.2 drives sustained burst-firing, which is critical for absence seizure propagation in reticular thalamic neurons.

Epilepsia

Cain, Stuart M SM; Tyson, John R JR; Choi, Hyun-Beom HB; Ko, Rebecca R; Lin, Paulo J C PJC; LeDue, Jeffrey M JM; Powell, Kim L KL; Bernier, Louis-Philippe LP; Rungta, Ravi L RL; Yang, Yi Y; Cullis, Pieter R PR; O'Brien, Terence J TJ; MacVicar, Brian A BA; Snutch, Terrance P TP

Publication Date: 2018-04

Variant appearance in text: CACNA1H: R1584P

PubMed Link: 29468672

Variant Present in the following documents:

• Main text
• EPI-59-778.pdf

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The Cacna1h mutation in the GAERS model of absence epilepsy enhances T-type Ca2+ currents by altering calnexin-dependent trafficking of Cav3.2 channels.

Scientific Reports

Proft, Juliane J; Rzhepetskyy, Yuriy Y; Lazniewska, Joanna J; Zhang, Fang-Xiong FX; Cain, Stuart M SM; Snutch, Terrance P TP; Zamponi, Gerald W GW; Weiss, Norbert N

Publication Date: 2017-09-14

Variant appearance in text: Cav3.2: R1584P

PubMed Link: 28912545

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11591.pdf

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Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain.

Plos One

Casillas-Espinosa, Pablo M PM; Powell, Kim L KL; Zhu, Mingfu M; Campbell, C Ryan CR; Maia, Jessica M JM; Ren, Zhong Z; Jones, Nigel C NC; O'Brien, Terence J TJ; Petrovski, Slavé S

Publication Date: 2017

Variant appearance in text: CACNA1H: R1584P

PubMed Link: 28708842

Variant Present in the following documents:

• Main text
• pone.0179924.pdf

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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: R1584P

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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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: R1584P

PubMed Link: 26729757

Variant Present in the following documents:

• Main text

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Advances on genetic rat models of epilepsy.

Experimental Animals

Serikawa, Tadao T; Mashimo, Tomoji T; Kuramoro, Takashi T; Voigt, Birger B; Ohno, Yukihiro Y; Sasa, Masashi M

Publication Date: 2015

Variant appearance in text: CACNA1H: R1584P

PubMed Link: 25312505

Variant Present in the following documents:

• Main text
• expanim-64-001.pdf

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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: R1584P

PubMed Link: 24847307

Variant Present in the following documents:

• Main text
• fneur-05-00045.pdf

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Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Guerrini, Renzo R; Marini, Carla C; Mantegazza, Massimo M

Publication Date: 2014-04

Variant appearance in text: CACNA1H: R1584P

PubMed Link: 24664660

Variant Present in the following documents:

• Main text

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Low threshold T-type calcium channels as targets for novel epilepsy treatments.

British Journal Of Clinical Pharmacology

Powell, Kim L KL; Cain, Stuart M SM; Snutch, Terrance P TP; O'Brien, Terence J TJ

Publication Date: 2014-05

Variant appearance in text: CACNA1H: R1584P

PubMed Link: 23834404

Variant Present in the following documents:

• Main text

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Role of voltage-gated calcium channels in epilepsy.

Pflugers Archiv : European Journal Of Physiology

Zamponi, Gerald W GW; Lory, Philippe P; Perez-Reyes, Edward E

Publication Date: 2010-07

Variant appearance in text: CACNA1H: R1584P

PubMed Link: 20091047

Variant Present in the following documents:

• Main text

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A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Powell, Kim L KL; Cain, Stuart M SM; Ng, Caroline C; Sirdesai, Shreerang S; David, Laurence S LS; Kyi, Mervyn M; Garcia, Esperanza E; Tyson, John R JR; Reid, Christopher A CA; Bahlo, Melanie M; Foote, Simon J SJ; Snutch, Terrance P TP; O'Brien, Terence J TJ

Publication Date: 2009-01-14

Variant appearance in text: Cav3.2: R1584P

PubMed Link: 19144837

Variant Present in the following documents:

• Main text

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