| Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia. | Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
Sun WB, Fu JX, Chen YL, Li HF, Wu ZY, Chen DF. | 09/12/2024 |
| Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer. | Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer.
Uhan S, Zidar N, Tomažič A, Hauptman N. | 09/18/2021 |
| The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated K(+) channel Kv1.1 through protein kinase C delta. | The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated K(+) channel Kv1.1 through protein kinase C delta.
Tian Y, Korn P, Tripathi P, Komnig D, Wiemuth D, Nikouee A, Classen A, Bolm C, Falkenburger BH, Lüscher B, Gründer S., Free PMC Article | 07/10/2021 |
| Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders. | Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Yuan H, Yuan H, Wang Q, Ye W, Yao R, Xu W, Liu Y., Free PMC Article | 06/5/2021 |
| A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel. | A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Zhao J, Petitjean D, Haddad GA, Batulan Z, Blunck R., Free PMC Article | 02/27/2021 |
| Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E, Fons C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A, Pujol A., Free PMC Article | 02/6/2021 |
| Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity. | Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K, Ammerman L, Glasscock E., Free PMC Article | 01/23/2021 |
| Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine. | Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Manville RW, Abbott GW., Free PMC Article | 09/12/2020 |
| Kv1.1 is important for neural control of the heart and that Kcna1 deletion leads to cardiac dysfunction that appears to be brain-driven. [review] | Kv1.1 channel subunits in the control of neurocardiac function.
Glasscock E., Free PMC Article | 07/18/2020 |
| Depletion of KCNA1 suppressed growth, proliferation, migration and invasion of HeLa cells | Silencing of KCNA1 suppresses the cervical cancer development via mitochondria damage.
Liu L, Chen Y, Zhang Q, Li C., Free PMC Article | 07/18/2020 |
| this is the second report linking KCNA1 with hypomagnesemia, thereby emphasizing the need for further evaluation of the clinical phenotypes observed in patients carrying KCNA1 mutations | A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF., Free PMC Article | 09/28/2019 |
| recurrent de novo variants in the paralogous PVP motif of KCNA2 have previously been shown to abolish channel function and also cause early-onset epileptic encephalopathy. Importantly, this report extends the range of phenotypes associated with KCNA1 variants to include epileptic encephalopathy when the PVP motif is involved. | De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A, Golumbek P, Cellini E, Doccini V, Guerrini R, Wallgren-Pettersson C, Thuresson AC, Gurnett CA. | 08/24/2019 |
| Pathogenic mutation in KCNA1 gene is associated with Episodic Ataxia. | Genetic Variants Associated with Episodic Ataxia in Korea.
Choi KD, Kim JS, Kim HJ, Jung I, Jeong SH, Lee SH, Kim DU, Kim SH, Choi SY, Shin JH, Kim DS, Park KP, Kim HS, Choi JH., Free PMC Article | 07/20/2019 |
| This study investigated the tissue expression levels, alpha subunit composition and distribution of Shaker-related voltage-dependent potassium Kv1 channels in human hippocampus by combining western blotting experiments. | Shaker-related voltage-gated potassium channels Kv1 in human hippocampus.
Willis M, Leitner I, Seppi K, Trieb M, Wietzorrek G, Marksteiner J, Knaus HG. | 03/2/2019 |
| we found a new mutation in KCNA1 (F303V) and demonstrated that the reduced current amplitudes and altered gating properties of the channel account for its pathophysiological impact. | A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.
Hasan S, Bove C, Silvestri G, Mantuano E, Modoni A, Veneziano L, Macchioni L, Hunter T, Hunter G, Pessia M, D'Adamo MC., Free PMC Article | 01/12/2019 |
| study suggests that these mutations in KCNA1 cause the Kv1.1 channel dysfunction, which leads to familial paroxysmal kinesigenic dyskinesia | Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Yin XM, Lin JH, Cao L, Zhang TM, Zeng S, Zhang KL, Tian WT, Hu ZM, Li N, Wang JL, Guo JF, Wang RX, Xia K, Zhang ZH, Yin F, Peng J, Liao WP, Yi YH, Liu JY, Yang ZX, Chen Z, Mao X, Yan XX, Jiang H, Shen L, Chen SD, Zhang LM, Tang BS. | 01/12/2019 |
| In this work, we showed that although both Kv1.1 and Kv1.3 channels are expressed in U87 (glioblastoma), MDA-MB-231 (breast cancer) and LS174 (colon adenocarcinoma) cells, these respond differently to KAaH1 or KAaH2, two homologous Kv1 blockers from scorpion venom | Functional role of Kv1.1 and Kv1.3 channels in the neoplastic progression steps of three cancer cell lines, elucidated by scorpion peptides.
Aissaoui D, Mlayah-Bellalouna S, Jebali J, Abdelkafi-Koubaa Z, Souid S, Moslah W, Othman H, Luis J, ElAyeb M, Marrakchi N, Essafi-Benkhadir K, Srairi-Abid N. | 09/1/2018 |
| A novel Kv1.1 mutation E283K is associated with a broader EA1 phenotype. Mutant channels show slower activation and positively shifted voltage dependence. | A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
Imbrici P, Altamura C, Gualandi F, Mangiatordi GF, Neri M, De Maria G, Ferlini A, Padovani A, D'Adamo MC, Nicolotti O, Pessia M, Conte D, Filosto M, Desaphy JF. | 05/5/2018 |
| Study reports a novel KCNA1 mutation associated with an episodic ataxia type 1 phenotype and a possible association with malignant hyperthermia (MH). The current report broadens the phenotypes associated with KCNA1 mutations to include possible susceptibility to MH. | A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Mestre TA, Manole A, MacDonald H, Riazi S, Kraeva N, Hanna MG, Lang AE, Männikkö R, Yoon G. | 02/10/2018 |
| Mutation p.Arg324Thr in the KCNA1 gene is pathogenic and results in episodic ataxia type 1 through a dominant-negative effect. | Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Tristán-Clavijo E, Scholl FG, Macaya A, Iglesias G, Rojas AM, Lucas M, Castellano A, Martinez-Mir A. | 12/30/2017 |
| Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. | Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.
Qu J, Lu SH, Lu ZL, Xu P, Xiang DX, Qu Q., Free PMC Article | 07/22/2017 |
| we demonstrate that the pathophysiological impact of the I262T mutation entails altered channel gating and defective protein biosynthesis, both of which raise imperative questions that call for further elucidation of the structural and functional roles of the S3 transmembrane segment in Kv1.1 channels. | The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.
Chen SH, Fu SJ, Huang JJ, Tang CY., Free PMC Article | 12/31/2016 |
| Herein, we critically evaluate the molecular and biophysical characteristics of the KV1.1 protein in comparison with others and discuss their role in the greater penetrance of KCNA1 mutations in humans leading to the neurological signs of episodic ataxia type 1 | Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease.
Ovsepian SV, LeBerre M, Steuber V, O'Leary VB, Leibold C, Oliver Dolly J. | 12/17/2016 |
| KCNA1 mutations should be considered in patients of all ages with episodic neurological phenotypes, even when ataxia is not present. | Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB., Free PMC Article | 10/22/2016 |
| These findings provide evidence of an intrinsic cardiac role of Kv1.1 channels and indicate that they may contribute to atrial repolarization and atrial fibrillation susceptibility. | Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation.
Glasscock E, Voigt N, McCauley MD, Sun Q, Li N, Chiang DY, Zhou XB, Molina CE, Thomas D, Schmidt C, Skapura DG, Noebels JL, Dobrev D, Wehrens XH., Free PMC Article | 04/2/2016 |