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1998 1
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235 results

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Page 1
K(Ca) 2.2 (KCNN2): A physiologically and therapeutically important potassium channel.
Rahman MA, Orfali R, Dave N, Lam E, Naguib N, Nam YW, Zhang M. Rahman MA, et al. J Neurosci Res. 2023 Nov;101(11):1699-1710. doi: 10.1002/jnr.25233. Epub 2023 Jul 19. J Neurosci Res. 2023. PMID: 37466411 Free PMC article. Review.
Multiple brain regions, including the hippocampus, express the K(Ca) 2.2 channel encoded by the KCNN2 gene on chromosome 5. Of particular interest, rat cerebellar Purkinje cells express K(Ca) 2.2 channels, which are crucial for various cellular processes during development …
Multiple brain regions, including the hippocampus, express the K(Ca) 2.2 channel encoded by the KCNN2 gene on chromosome 5. Of partic …
KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.
Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J. Balint B, et al. Eur J Neurol. 2020 Aug;27(8):1471-1477. doi: 10.1111/ene.14228. Epub 2020 May 3. Eur J Neurol. 2020. PMID: 32212350
We identified a novel missense variant in potassium calcium-activated channel subfamily N member 2 (KCNN2) [NM_021614:c.1112G>A:p.(Gly371Glu)], which was the only variant that we were able to identify as segregating with the phenotype over three generations. ...KCNN2
We identified a novel missense variant in potassium calcium-activated channel subfamily N member 2 (KCNN2) [NM_021614:c.1112G>A:p. …
KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation.
Lavenstein B, McGurrin P, Attaripour S, Vial F, Hallett M. Lavenstein B, et al. Tremor Other Hyperkinet Mov (N Y). 2022 Jan 24;12:2. doi: 10.5334/tohm.668. eCollection 2022. Tremor Other Hyperkinet Mov (N Y). 2022. PMID: 35106185 Free PMC article.
BACKGROUND: Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a patient with a rare form of KCNN2 mutation. CASE REPORT: A 10-year-old male presented with a clinical syndrome of tremor and myoclonus. …
BACKGROUND: Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a pa …
KCNN2 polymorphisms and cardiac tachyarrhythmias.
Yu CC, Chia-Ti T, Chen PL, Wu CK, Chiu FC, Chiang FT, Chen PS, Chen CL, Lin LY, Juang JM, Ho LT, Lai LP, Yang WS, Lin JL. Yu CC, et al. Medicine (Baltimore). 2016 Jul;95(29):e4312. doi: 10.1097/MD.0000000000004312. Medicine (Baltimore). 2016. PMID: 27442679 Free PMC article.
Potassium calcium-activated channel subfamily N member 2 (KCNN2) encodes an integral membrane protein that forms small-conductance calcium-activated potassium (SK) channels. ...There was a significant association between the KCNN2 variants and clinically significant …
Potassium calcium-activated channel subfamily N member 2 (KCNN2) encodes an integral membrane protein that forms small-conductance ca …
Kcnn2 blockade reverses learning deficits in a mouse model of fetal alcohol spectrum disorders.
Mohammad S, Page SJ, Wang L, Ishii S, Li P, Sasaki T, Basha A, Salzberg A, Quezado Z, Imamura F, Nishi H, Isaka K, Corbin JG, Liu JS, Kawasawa YI, Torii M, Hashimoto-Torii K. Mohammad S, et al. Nat Neurosci. 2020 Apr;23(4):533-543. doi: 10.1038/s41593-020-0592-z. Epub 2020 Mar 16. Nat Neurosci. 2020. PMID: 32203497 Free PMC article.
Among the altered genes, an increase of the calcium-activated potassium channel Kcnn2 in the motor cortex correlated with motor learning deficits in a mouse model of FASD. Pharmacologic blockade of Kcnn2 improves these learning deficits, suggesting Kcnn2 bloc …
Among the altered genes, an increase of the calcium-activated potassium channel Kcnn2 in the motor cortex correlated with motor learn …
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C. Mochel F, et al. Brain. 2020 Dec 1;143(12):3564-3573. doi: 10.1093/brain/awaa346. Brain. 2020. PMID: 33242881
KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are largely un
KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutation
Channel problems.
Otto G. Otto G. Nat Rev Neurosci. 2020 Jun;21(6):300. doi: 10.1038/s41583-020-0305-3. Nat Rev Neurosci. 2020. PMID: 32286549 No abstract available.
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis.
d'Apolito M, Ceccarini C, Savino R, Adipietro I, di Bari I, Santacroce R, Curcetti M, D'Andrea G, Croce AI, Cesarano C, Polito AN, Margaglione M. d'Apolito M, et al. Genes (Basel). 2023 Jun 29;14(7):1380. doi: 10.3390/genes14071380. Genes (Basel). 2023. PMID: 37510285 Free PMC article.
In the index case, WES analysis performed supposing a dominant mode of inheritance, identified a novel heterozygous missense variant in potassium calcium-activated channel subfamily N member 2 (KCNN2) (NM_021614.3: c.1145G>A, p.Gly382Asp). In the pedigree investigation, …
In the index case, WES analysis performed supposing a dominant mode of inheritance, identified a novel heterozygous missense variant in pota …
235 results