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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1990 | 1 |
1993 | 1 |
2000 | 1 |
2020 | 2 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 3747
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Page 1
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology. 2022 May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21.
Neurology. 2022.
PMID: 35314505
Free PMC article.
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
Rydzanicz M, Zwoliński P, Gasperowicz P, Pollak A, Kostrzewa G, Walczak A, Konarzewska M, Płoski R.
Rydzanicz M, et al.
Am J Med Genet A. 2021 Nov;185(11):3384-3389. doi: 10.1002/ajmg.a.62455. Epub 2021 Aug 27.
Am J Med Genet A. 2021.
PMID: 34448338
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Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Rademacher A, Schwarz N, Seiffert S, Pendziwiat M, Rohr A, van Baalen A, Helbig I, Weber Y, Muhle H.
Rademacher A, et al.
Neuropediatrics. 2020 Oct;51(5):368-372. doi: 10.1055/s-0040-1710524. Epub 2020 May 11.
Neuropediatrics. 2020.
PMID: 32392612
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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.
Vetri L, Calì F, Vinci M, Amato C, Roccella M, Granata T, Freri E, Solazzi R, Romano V, Elia M.
Vetri L, et al.
Eur J Med Genet. 2020 Apr;63(4):103848. doi: 10.1016/j.ejmg.2020.103848. Epub 2020 Jan 20.
Eur J Med Genet. 2020.
PMID: 31972370
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Impaired fast-spiking, suppressed cortical inhibition, and increased susceptibility to seizures in mice lacking Kv3.2 K+ channel proteins.
Lau D, Vega-Saenz de Miera EC, Contreras D, Ozaita A, Harvey M, Chow A, Noebels JL, Paylor R, Morgan JI, Leonard CS, Rudy B.
Lau D, et al.
J Neurosci. 2000 Dec 15;20(24):9071-85. doi: 10.1523/JNEUROSCI.20-24-09071.2000.
J Neurosci. 2000.
PMID: 11124984
Free PMC article.
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Localization of Shaw-related K+ channel genes on mouse and human chromosomes.
Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D, Vega-Saenz de Miera E, Rudy B.
Haas M, et al.
Mamm Genome. 1993 Dec;4(12):711-5. doi: 10.1007/BF00357794.
Mamm Genome. 1993.
PMID: 8111118
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A family of three mouse potassium channel genes with intronless coding regions.
Chandy KG, Williams CB, Spencer RH, Aguilar BA, Ghanshani S, Tempel BL, Gutman GA.
Chandy KG, et al.
Science. 1990 Feb 23;247(4945):973-5. doi: 10.1126/science.2305265.
Science. 1990.
PMID: 2305265
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