| 1 | DEE103, KCNC2
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| Novel KCNC2 variant associated with developmental and epileptic encephalopathy.
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| Huo L, Wu Q, Yang F, Liu X, Yang Z, Wang H.
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| Int J Dev Neurosci. Jun;83(4):357-367. doi: 10.1002/jdn.10263. Epub 2023 May 18 2023
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| 2 | DEE103, KCNC2
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| Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
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| Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y.
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| Neurology. May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21. 2022
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| 3 | DEE103, KCNC2
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| A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy
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| Rydzanicz M, Zwoliński P, Gasperowicz P, Pollak A, Kostrzewa G, Walczak A, Konarzewska M, Płoski R.
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| Am J Med Genet A. Nov;185(11):3384-3389. doi: 10.1002/ajmg.a.62455. Epub 2021 Aug 27. 2021
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| 4 | DEE103, KCNC2
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| A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy
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| Vetri L, Calě F, Vinci M, Amato C, Roccella M, Granata T, Freri E, Solazzi R, Romano V, Elia M
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| Eur J Med Genet. Apr;63(4):103848. doi: 10.1016/j.ejmg.2020.103848. Epub 2020 Jan 20. 2020
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| 5 | KCNC1, KCNC2
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| Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.
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| Yanagi M, Joho RH, Southcott SA, Shukla AA, Ghose S, Tamminga CA.
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| Mol Psychiatry 19(5):573-9. doi: 10.1038/mp.2013.49.
2014
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| 6 | ATXN7L3, KCNC2
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| Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
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| Rajakulendran S, Roberts J, Koltzenburg M, Hanna MG, Stewart H.
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| J Neurol Neurosurg Psychiatry 84(11):1255-7. doi: 10.1136/jnnp-2012-304555.
2013
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| 7 | KCNC2
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| Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.
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| Boda E, Hoxha E, Pini A, Montarolo F, Tempia F.
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| J Mol Neurosci 46(3):606-15. doi: 10.1007/s12031-011-9648-6.
2012
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| 8 | KCNC2
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| Visual experience regulates Kv3.1b and Kv3.2 expression in developing rat visual cortex.
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| Grabert J, Wahle P.
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| Neuroscience 158(2):654-64. doi: 10.1016/j.neuroscience.2008.07.035.
2009
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| 9 | KCNC2
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| Neuronal activity and TrkB ligands influence Kv3.1b and Kv3.2 expression in developing cortical interneurons.
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| Grabert J, Wahle P.
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| Neuroscience 156(3):618-29. doi: 10.1016/j.neuroscience.2008.08.008.
2008
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| 10 | CACNA1G, KCNC2
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| Differential regulation of action potential firing in adult murine thalamocortical neurons by Kv3.2, Kv1, and SK potassium and N-type calcium channels.
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| Kasten MR, Rudy B, Anderson MP.
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| J Physiol 584(Pt 2):565-82.
2007
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| 11 | KCNC2
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| Differential expression of Kv3.1b and Kv3.2 potassium channel subunits in interneurons of the basolateral amygdala.
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| McDonald AJ, Mascagni F.
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| Neuroscience 138(2):537-47.
2006
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| 12 | AQP4, KCNC2
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| Potassium channel subunit Kv3.2 and the water channel aquaporin-4 are selectively localized to cerebellar pinceau.
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| Bobik M, Ellisman MH, Rudy B, Martone ME.
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| Brain Res 1026(2):168-78.
2004
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| 13 | KCNC2
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| Kv3.1b is a novel component of CNS nodes.
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| Devaux J, Alcaraz G, Grinspan J, Bennett V, Joho R, Crest M, Scherer SS.
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| J Neurosci 23(11):4509-18. 2003
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| 14 | KCNC2, KCNC3
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| Localization of Shaw-related K+ channel genes on mouse and human chromosomes.
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| Haas M, et al.
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| Mamm Genome 4 : 711-715. 1993
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| 15 | KCNA1, KCNA2, KCNA5, KCNA7, KCNC2, KCNC3, KCNC4, KCNE1
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| Chromosomal localization of 7 potassium channel genes.
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| McPherson JD, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1979. 1991
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