240 related articles for article (PubMed ID: 28666963)
1. 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
Mol Cell Neurosci; 2017 Sep; 83():6-12. PubMed ID: 28666963
[TBL] [Abstract][Full Text] [Related]
2. 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
Sci Rep; 2016 Jan; 6():19378. PubMed ID: 26778656
[TBL] [Abstract][Full Text] [Related]
3. 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
Mol Genet Genomic Med; 2020 Oct; 8(10):e1434. PubMed ID: 32705822
[TBL] [Abstract][Full Text] [Related]
4. 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
Int J Mol Sci; 2020 Oct; 21(20):. PubMed ID: 33066705
[TBL] [Abstract][Full Text] [Related]
5. Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
Imbrici P; D'Adamo MC; Kullmann DM; Pessia M
Eur J Neurosci; 2006 Dec; 24(11):3073-83. PubMed ID: 17156368
[TBL] [Abstract][Full Text] [Related]
6. A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
Imbrici P; Gualandi F; D'Adamo MC; Masieri MT; Cudia P; De Grandis D; Mannucci R; Nicoletti I; Tucker SJ; Ferlini A; Pessia M
Neuroscience; 2008 Dec; 157(3):577-87. PubMed ID: 18926884
[TBL] [Abstract][Full Text] [Related]
7. Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Ishida S; Sakamoto Y; Nishio T; Baulac S; Kuwamura M; Ohno Y; Takizawa A; Kaneko S; Serikawa T; Mashimo T
Brain Res; 2012 Jan; 1435():154-66. PubMed ID: 22206926
[TBL] [Abstract][Full Text] [Related]
8. 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
Mov Disord; 2016 Nov; 31(11):1743-1748. PubMed ID: 27477325
[TBL] [Abstract][Full Text] [Related]
9. 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
Sci Rep; 2017 Jul; 7(1):4583. PubMed ID: 28676720
[TBL] [Abstract][Full Text] [Related]
10. Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Imbrici P; D'Adamo MC; Grottesi A; Biscarini A; Pessia M
Am J Physiol Cell Physiol; 2011 Jun; 300(6):C1314-22. PubMed ID: 21307345
[TBL] [Abstract][Full Text] [Related]
11. A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels.
Petitjean D; Kalstrup T; Zhao J; Blunck R
J Neurosci; 2015 Sep; 35(35):12198-206. PubMed ID: 26338330
[TBL] [Abstract][Full Text] [Related]
12. Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
Dinoi G; Morin M; Conte E; Mor Shaked H; Coppola MA; D'Adamo MC; Elpeleg O; Liantonio A; Hartmann I; De Luca A; Blunck R; Russo A; Imbrici P
Int J Mol Sci; 2022 Jul; 23(15):. PubMed ID: 35897654
[TBL] [Abstract][Full Text] [Related]
13. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
Chen H; von Hehn C; Kaczmarek LK; Ment LR; Pober BR; Hisama FM
Neurogenetics; 2007 Apr; 8(2):131-5. PubMed ID: 17136396
[TBL] [Abstract][Full Text] [Related]
14. Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Brunetti O; Imbrici P; Botti FM; Pettorossi VE; D'Adamo MC; Valentino M; Zammit C; Mora M; Gibertini S; Di Giovanni G; Muscat R; Pessia M
Neurobiol Dis; 2012 Sep; 47(3):310-21. PubMed ID: 22609489
[TBL] [Abstract][Full Text] [Related]
15. 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
Neurogenetics; 2016 Oct; 17(4):245-249. PubMed ID: 27271339
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Lee H; Wang H; Jen JC; Sabatti C; Baloh RW; Nelson SF
Hum Mutat; 2004 Dec; 24(6):536. PubMed ID: 15532032
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
Zuberi SM; Eunson LH; Spauschus A; De Silva R; Tolmie J; Wood NW; McWilliam RC; Stephenson JB; Kullmann DM; Hanna MG
Brain; 1999 May; 122 ( Pt 5)():817-25. PubMed ID: 10355668
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
D'Adamo MC; Imbrici P; Sponcichetti F; Pessia M
FASEB J; 1999 Aug; 13(11):1335-45. PubMed ID: 10428758
[TBL] [Abstract][Full Text] [Related]
19. Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC; Liantonio A; Rolland JF; Pessia M; Imbrici P
Int J Mol Sci; 2020 Apr; 21(8):. PubMed ID: 32331416
[TBL] [Abstract][Full Text] [Related]
20. Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing.
Ferrick-Kiddie EA; Rosenthal JJ; Ayers GD; Emeson RB
Sci Rep; 2017 Feb; 7():41095. PubMed ID: 28216637
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]