261 related articles for article (PubMed ID: 33132203)
1. Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.
Hawkins NA; Misra SN; Jurado M; Kang SK; Vierra NC; Nguyen K; Wren L; George AL; Trimmer JS; Kearney JA
Neurobiol Dis; 2021 Jan; 147():105141. PubMed ID: 33132203
[TBL] [Abstract][Full Text] [Related]
2. A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
Thiffault I; Speca DJ; Austin DC; Cobb MM; Eum KS; Safina NP; Grote L; Farrow EG; Miller N; Soden S; Kingsmore SF; Trimmer JS; Saunders CJ; Sack JT
J Gen Physiol; 2015 Nov; 146(5):399-410. PubMed ID: 26503721
[TBL] [Abstract][Full Text] [Related]
3. Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.
Kang SK; Hawkins NA; Thompson CH; Baker EM; Echevarria-Cooper DM; Barse L; Thenstedt T; Dixon CJ; Speakes N; George AL; Kearney JA
Neurobiol Dis; 2024 May; 194():106470. PubMed ID: 38485094
[TBL] [Abstract][Full Text] [Related]
4. Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent
Kang SK; Hawkins NA; Echevarria-Cooper DM; Baker EM; Dixon CJ; Speakes N; Kearney JA
bioRxiv; 2023 Mar; ():. PubMed ID: 37034689
[TBL] [Abstract][Full Text] [Related]
5. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
Saitsu H; Akita T; Tohyama J; Goldberg-Stern H; Kobayashi Y; Cohen R; Kato M; Ohba C; Miyatake S; Tsurusaki Y; Nakashima M; Miyake N; Fukuda A; Matsumoto N
Sci Rep; 2015 Oct; 5():15199. PubMed ID: 26477325
[TBL] [Abstract][Full Text] [Related]
6. Complexes formed with integrin-α5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity
Yu W; Shin MR; Sesti F
FASEB J; 2019 Dec; 33(12):14680-14689. PubMed ID: 31682765
[TBL] [Abstract][Full Text] [Related]
7. AMIGO-Kv2.1 Potassium Channel Complex Is Associated With Schizophrenia-Related Phenotypes.
Peltola MA; Kuja-Panula J; Liuhanen J; Võikar V; Piepponen P; Hiekkalinna T; Taira T; Lauri SE; Suvisaari J; Kulesskaya N; Paunio T; Rauvala H
Schizophr Bull; 2016 Jan; 42(1):191-201. PubMed ID: 26240432
[TBL] [Abstract][Full Text] [Related]
8. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C; Barcia G; Jennesson M; Le Guyader G; Schneider A; Mignot C; Lesca G; Breuillard D; Montomoli M; Keren B; Doummar D; Billette de Villemeur T; Afenjar A; Marey I; Gerard M; Isnard H; Poisson A; Dupont S; Berquin P; Meyer P; Genevieve D; De Saint Martin A; El Chehadeh S; Chelly J; Guët A; Scalais E; Dorison N; Myers CT; Mefford HC; Howell KB; Marini C; Freeman JL; Nica A; Terrone G; Sekhara T; Lebre AS; Odent S; Sadleir LG; Munnich A; Guerrini R; Scheffer IE; Kabashi E; Nabbout R
Hum Mutat; 2020 Jan; 41(1):69-80. PubMed ID: 31513310
[TBL] [Abstract][Full Text] [Related]
9. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF; Syrbe S; Brilstra EH; Verbeek N; Kerr B; Dubbs H; Bayat A; Desai S; Naidu S; Srivastava S; Cagaylan H; Yis U; Saunders C; Rook M; Plugge S; Muhle H; Afawi Z; Klein KM; Jayaraman V; Rajagopalan R; Goldberg E; Marsh E; Kessler S; Bergqvist C; Conlin LK; Krok BL; Thiffault I; Pendziwiat M; Helbig I; Polster T; Borggraefe I; Lemke JR; van den Boogaardt MJ; Møller RS; Koeleman BPC
JAMA Neurol; 2017 Oct; 74(10):1228-1236. PubMed ID: 28806457
[TBL] [Abstract][Full Text] [Related]
10. Identification of VAPA and VAPB as Kv2 Channel-Interacting Proteins Defining Endoplasmic Reticulum-Plasma Membrane Junctions in Mammalian Brain Neurons.
Kirmiz M; Vierra NC; Palacio S; Trimmer JS
J Neurosci; 2018 Aug; 38(35):7562-7584. PubMed ID: 30012696
[TBL] [Abstract][Full Text] [Related]
11. Novel KCNB1 mutation associated with non-syndromic intellectual disability.
Latypova X; Matsumoto N; Vinceslas-Muller C; Bézieau S; Isidor B; Miyake N
J Hum Genet; 2017 Apr; 62(5):569-573. PubMed ID: 27928161
[TBL] [Abstract][Full Text] [Related]
12. De novo KCNB1 mutations in epileptic encephalopathy.
Torkamani A; Bersell K; Jorge BS; Bjork RL; Friedman JR; Bloss CS; Cohen J; Gupta S; Naidu S; Vanoye CG; George AL; Kearney JA
Ann Neurol; 2014 Oct; 76(4):529-540. PubMed ID: 25164438
[TBL] [Abstract][Full Text] [Related]
13. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Bhat S; Rousseau J; Michaud C; Lourenço CM; Stoler JM; Louie RJ; Clarkson LK; Lichty A; Koboldt DC; Reshmi SC; Sisodiya SM; Hoytema van Konijnenburg EMM; Koop K; van Hasselt PM; Démurger F; Dubourg C; Sullivan BR; Hughes SS; Thiffault I; Tremblay ES; Accogli A; Srour M; Blunck R; Campeau PM
Am J Hum Genet; 2024 Apr; 111(4):761-777. PubMed ID: 38503299
[TBL] [Abstract][Full Text] [Related]
14. Deletion of the Kv2.1 delayed rectifier potassium channel leads to neuronal and behavioral hyperexcitability.
Speca DJ; Ogata G; Mandikian D; Bishop HI; Wiler SW; Eum K; Wenzel HJ; Doisy ET; Matt L; Campi KL; Golub MS; Nerbonne JM; Hell JW; Trainor BC; Sack JT; Schwartzkroin PA; Trimmer JS
Genes Brain Behav; 2014 Apr; 13(4):394-408. PubMed ID: 24494598
[TBL] [Abstract][Full Text] [Related]
15. Induction of stable ER-plasma-membrane junctions by Kv2.1 potassium channels.
Fox PD; Haberkorn CJ; Akin EJ; Seel PJ; Krapf D; Tamkun MM
J Cell Sci; 2015 Jun; 128(11):2096-105. PubMed ID: 25908859
[TBL] [Abstract][Full Text] [Related]
16. Focal aggregation of voltage-gated, Kv2.1 subunit-containing, potassium channels at synaptic sites in rat spinal motoneurones.
Muennich EA; Fyffe RE
J Physiol; 2004 Feb; 554(Pt 3):673-85. PubMed ID: 14608003
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of K
Kang SK; Vanoye CG; Misra SN; Echevarria DM; Calhoun JD; O'Connor JB; Fabre KL; McKnight D; Demmer L; Goldenberg P; Grote LE; Thiffault I; Saunders C; Strauss KA; Torkamani A; van der Smagt J; van Gassen K; Carson RP; Diaz J; Leon E; Jacher JE; Hannibal MC; Litwin J; Friedman NR; Schreiber A; Lynch B; Poduri A; Marsh ED; Goldberg EM; Millichap JJ; George AL; Kearney JA
Ann Neurol; 2019 Dec; 86(6):899-912. PubMed ID: 31600826
[TBL] [Abstract][Full Text] [Related]
18. [A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature].
Miao P; Peng J; Chen C; Gai N; Yin F
Zhonghua Er Ke Za Zhi; 2017 Feb; 55(2):115-119. PubMed ID: 28173649
[No Abstract] [Full Text] [Related]
19. Molecular mechanisms underlying the apoptotic effect of KCNB1 K+ channel oxidation.
Wu X; Hernandez-Enriquez B; Banas M; Xu R; Sesti F
J Biol Chem; 2013 Feb; 288(6):4128-34. PubMed ID: 23275378
[TBL] [Abstract][Full Text] [Related]
20. Kv2 channel-AMIGO β-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking.
Maverick EE; Leek AN; Tamkun MM
J Cell Sci; 2021 Jun; 134(12):. PubMed ID: 34137443
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
