| Natural history of non-polyglutamine CACNA1A disease in Austria. | Natural history of non-polyglutamine CACNA1A disease in Austria.
Indelicato E, Nachbauer W, Amprosi MS, Maier S, Unterberger I, Delazer M, Kaltseis K, Kiechl S, Broessner G, Baumann M, Boesch S., Free PMC Article | 10/9/2024 |
| Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene. | Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.
Bhattacharjee S, Paramanandam V. | 01/8/2024 |
| CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options. | CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.
Indelicato E, Boesch S. | 10/23/2023 |
| High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy. | High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy.
Yin Y, Wu S, Niu L, Huang S., Free PMC Article | 06/26/2023 |
| Clinical and genetic characterization of CACNA1A-related disease. | Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR, Fan X, Shen Y, Chung WK., Free PMC Article | 09/17/2022 |
| The complexities of CACNA1A in clinical neurogenetics. | The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC. | 07/30/2022 |
| Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report. | Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report.
Luan H, Zhang L, Zhang S, Zhang M., Free PMC Article | 04/30/2022 |
| Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. | Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez IJ, González Granado LI, Martin MA, Quesada-Espinosa JF, Moreno-García M., Free PMC Article | 03/26/2022 |
| Three Novel Genetic Variants in the FAM110D, CACNA1A, and NLRP12 Genes Are Associated With Susceptibility to Hypertension Among Dai People. | Three Novel Genetic Variants in the FAM110D, CACNA1A, and NLRP12 Genes Are Associated With Susceptibility to Hypertension Among Dai People.
Zhang L, Sun Y, Zhang X, Shan X, Li J, Yao Y, Shu Y, Lin K, Huang X, Yang Z, Chu J, Huang L, Sun H. | 02/12/2022 |
| Advances in genotype-phenotype associations for CACNA1A-related epilepsies. | Advances in genotype-phenotype associations for CACNA1A-related epilepsies.
Brunklaus A. | 02/5/2022 |
| [Diversity of CACNA1A-related disorders].", trans "Raznoobrazie boleznei, svyazannykh s genom CACNA1A. | [Diversity of CACNA1A-related disorders].
Rudenskaya GE, Sermyagina IG, Chukhrova AL, Dadali EL, Lozier ER, Shchagina OA. | 01/29/2022 |
| The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function. | The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.
Gandini MA, Souza IA, Ferron L, Innes AM, Zamponi GW., Free PMC Article | 01/15/2022 |
| Genotype-phenotype correlation of CACNA1A variants in children with epilepsy. | Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
Niu X, Yang Y, Chen Y, Cheng M, Liu M, Ding C, Tian X, Yang Z, Jiang Y, Zhang Y. | 01/1/2022 |
| Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients. | Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.
Alehabib E, Esmaeilizadeh Z, Ranji-Burachaloo S, Tafakhori A, Darvish H, Movafagh A., Free PMC Article | 12/4/2021 |
| Potential Novel Genes for Late-Onset Alzheimer's Disease in East-Asian Descent Identified by APOE-Stratified Genome-Wide Association Study. | Potential Novel Genes for Late-Onset Alzheimer's Disease in East-Asian Descent Identified by APOE-Stratified Genome-Wide Association Study.
Kang S, Gim J, Lee J, Gunasekaran TI, Choi KY, Lee JJ, Seo EH, Ko PW, Chung JY, Choi SM, Lee YM, Jeong JH, Park KW, Song MK, Lee HW, Kim KW, Choi SH, Lee DY, Kim SY, Kim H, Kim BC, Ikeuchi T, Lee KH., Free PMC Article | 11/27/2021 |
| CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients. | CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P. | 10/16/2021 |
| CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report. | CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.
Romozzi M, Primiano G, Rollo E, Travaglini L, Calabresi P, Servidei S, Vollono C., Free PMC Article | 09/18/2021 |
| Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports. | Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports.
Na S, Kim T. | 09/18/2021 |
| A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels. | A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels.
Gambeta E, Gandini MA, Souza IA, Ferron L, Zamponi GW., Free PMC Article | 09/4/2021 |
| Adrenergic CaV1.2 Activation via Rad Phosphorylation Converges at alpha1C I-II Loop. | Adrenergic Ca(V)1.2 Activation via Rad Phosphorylation Converges at α(1C) I-II Loop.
Papa A, Kushner J, Hennessey JA, Katchman AN, Zakharov SI, Chen BX, Yang L, Lu R, Leong S, Diaz J, Liu G, Roybal D, Liao X, Del Rivero Morfin PJ, Colecraft HM, Pitt GS, Clarke O, Topkara V, Ben-Johny M, Marx SO., Free PMC Article | 07/31/2021 |
| Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine. | Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine.
Rasmussen AH, Olofsson I, Chalmer MA, Olesen J, Hansen TF., Free PMC Article | 07/10/2021 |
| A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy. | A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy.
Penkava J, Ledderose S, Chahrokh-Zadeh S, Munzig A, Eulenburg Z, Huppert D, Strupp M, Becker-Bense S., Free PMC Article | 07/3/2021 |
| Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells. | Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells.
Jefri M, Bell S, Peng H, Hettige N, Maussion G, Soubannier V, Wu H, Silveira H, Theroux JF, Moquin L, Zhang X, Aouabed Z, Krishnan J, O'Leary LA, Antonyan L, Zhang Y, McCarty V, Mechawar N, Gratton A, Schuppert A, Durcan TM, Fon EA, Ernst C., Free PMC Article | 07/3/2021 |
| CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings. | CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell L, Muchart J, Carrera L, Ortez CI, Nascimento A, Oliva B, Fernández-Fernández JM, Serrano M., Free PMC Article | 06/12/2021 |
| An elongated tract of polyQ in the carboxylterminus of human alpha1A calcium channel induces cell apoptosis by nuclear translocation. | An elongated tract of polyQ in the carboxyl‑terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation.
Sun J, Sun X, Li Z, Ma D, Lv Y., Free PMC Article | 03/13/2021 |