| 1 | DEE103, KCNC2 |
| Novel KCNC2 variant associated with developmental and epileptic encephalopathy. | |
| Huo L, Wu Q, Yang F, Liu X, Yang Z, Wang H. | |
| Int J Dev Neurosci. Jun;83(4):357-367. doi: 10.1002/jdn.10263. Epub 2023 May 18 2023 | |
| 2 | DEE103, KCNC2 |
| Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants | |
| 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. | |
| Neurology. May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21. 2022 | |
| 3 | DEE103, KCNC2 |
| 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. | |
| Am J Med Genet A. Nov;185(11):3384-3389. doi: 10.1002/ajmg.a.62455. Epub 2021 Aug 27. 2021 | |
| 4 | DEE103, KCNC2 |
| A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy | |
| Vetri L, Calě F, Vinci M, Amato C, Roccella M, Granata T, Freri E, Solazzi R, Romano V, Elia M | |
| Eur J Med Genet. Apr;63(4):103848. doi: 10.1016/j.ejmg.2020.103848. Epub 2020 Jan 20. 2020 | |