208 related articles for article (PubMed ID: 29069600)
1. A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A
Cell Rep; 2017 Oct; 21(4):926-933. PubMed ID: 29069600
[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. The Epilepsy of Infancy With Migrating Focal Seizures: Identification of
Mao X; Bruneau N; Gao Q; Becq H; Jia Z; Xi H; Shu L; Wang H; Szepetowski P; Aniksztejn L
Front Cell Neurosci; 2020; 14():1. PubMed ID: 32038177
[TBL] [Abstract][Full Text] [Related]
4. The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype.
Evely KM; Pryce KD; Bhattacharjee A
Neuroscience; 2017 May; 351():65-70. PubMed ID: 28366665
[TBL] [Abstract][Full Text] [Related]
5. Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.
Rizzo F; Ambrosino P; Guacci A; Chetta M; Marchese G; Rocco T; Soldovieri MV; Manocchio L; Mosca I; Casara G; Vecchi M; Taglialatela M; Coppola G; Weisz A
Mol Cell Neurosci; 2016 Apr; 72():54-63. PubMed ID: 26784557
[TBL] [Abstract][Full Text] [Related]
6. Lethal digenic mutations in the K
Hasan S; Balobaid A; Grottesi A; Dabbagh O; Cenciarini M; Rawashdeh R; Al-Sagheir A; Bove C; Macchioni L; Pessia M; Al-Owain M; D'Adamo MC
J Neurophysiol; 2017 Oct; 118(4):2402-2411. PubMed ID: 28747464
[TBL] [Abstract][Full Text] [Related]
7. An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack K
Quraishi IH; Stern S; Mangan KP; Zhang Y; Ali SR; Mercier MR; Marchetto MC; McLachlan MJ; Jones EM; Gage FH; Kaczmarek LK
J Neurosci; 2019 Sep; 39(37):7438-7449. PubMed ID: 31350261
[TBL] [Abstract][Full Text] [Related]
8. Transcriptional Regulation of the Sodium-activated Potassium Channel SLICK (KCNT2) Promoter by Nuclear Factor-κB.
Tomasello DL; Gancarz-Kausch AM; Dietz DM; Bhattacharjee A
J Biol Chem; 2015 Jul; 290(30):18575-83. PubMed ID: 26100633
[TBL] [Abstract][Full Text] [Related]
9. A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Bonzanni M; DiFrancesco JC; Milanesi R; Campostrini G; Castellotti B; Bucchi A; Baruscotti M; Ferrarese C; Franceschetti S; Canafoglia L; Ragona F; Freri E; Labate A; Gambardella A; Costa C; Rivolta I; Gellera C; Granata T; Barbuti A; DiFrancesco D
Neurobiol Dis; 2018 Oct; 118():55-63. PubMed ID: 29936235
[TBL] [Abstract][Full Text] [Related]
10. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
Inuzuka LM; Macedo-Souza LI; Della-Ripa B; Monteiro FP; Ramos L; Kitajima JP; Garzon E; Kok F
Brain Dev; 2020 Oct; 42(9):691-695. PubMed ID: 32773162
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
Bleakley LE; McKenzie CE; Soh MS; Forster IC; Pinares-Garcia P; Sedo A; Kathirvel A; Churilov L; Jancovski N; Maljevic S; Berkovic SF; Scheffer IE; Petrou S; Santoro B; Reid CA
Brain; 2021 Aug; 144(7):2060-2073. PubMed ID: 33822003
[TBL] [Abstract][Full Text] [Related]
13. De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ambrosino P; Soldovieri MV; Bast T; Turnpenny PD; Uhrig S; Biskup S; Döcker M; Fleck T; Mosca I; Manocchio L; Iraci N; Taglialatela M; Lemke JR
Ann Neurol; 2018 Jun; 83(6):1198-1204. PubMed ID: 29740868
[TBL] [Abstract][Full Text] [Related]
14. Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
Jackson A; Banka S; Stewart H; ; Robinson H; Lovell S; Clayton-Smith J
Am J Med Genet A; 2021 Oct; 185(10):3083-3091. PubMed ID: 34061450
[TBL] [Abstract][Full Text] [Related]
15. A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Abidi A; Devaux JJ; Molinari F; Alcaraz G; Michon FX; Sutera-Sardo J; Becq H; Lacoste C; Altuzarra C; Afenjar A; Mignot C; Doummar D; Isidor B; Guyen SN; Colin E; De La Vaissière S; Haye D; Trauffler A; Badens C; Prieur F; Lesca G; Villard L; Milh M; Aniksztejn L
Neurobiol Dis; 2015 Aug; 80():80-92. PubMed ID: 26007637
[TBL] [Abstract][Full Text] [Related]
16. Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms.
Tang QY; Zhang FF; Xu J; Wang R; Chen J; Logothetis DE; Zhang Z
Cell Rep; 2016 Jan; 14(1):129-139. PubMed ID: 26725113
[TBL] [Abstract][Full Text] [Related]
17. Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP.
Bhattacharjee A; Joiner WJ; Wu M; Yang Y; Sigworth FJ; Kaczmarek LK
J Neurosci; 2003 Dec; 23(37):11681-91. PubMed ID: 14684870
[TBL] [Abstract][Full Text] [Related]
18. Design, synthesis, and biological evaluation of a novel series of 1,2,4-oxadiazole inhibitors of SLACK potassium channels: Identification of in vitro tool VU0935685.
Qunies AM; Spitznagel BD; Du Y; David Weaver C; Emmitte KA
Bioorg Med Chem; 2023 Nov; 95():117487. PubMed ID: 37812884
[TBL] [Abstract][Full Text] [Related]
19. De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba C; Kato M; Takahashi N; Osaka H; Shiihara T; Tohyama J; Nabatame S; Azuma J; Fujii Y; Hara M; Tsurusawa R; Inoue T; Ogata R; Watanabe Y; Togashi N; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Tanaka F; Saitsu H; Matsumoto N
Epilepsia; 2015 Sep; 56(9):e121-8. PubMed ID: 26140313
[TBL] [Abstract][Full Text] [Related]
20. Human slack potassium channel mutations increase positive cooperativity between individual channels.
Kim GE; Kronengold J; Barcia G; Quraishi IH; Martin HC; Blair E; Taylor JC; Dulac O; Colleaux L; Nabbout R; Kaczmarek LK
Cell Rep; 2014 Dec; 9(5):1661-1672. PubMed ID: 25482562
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]