These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. KCNQ2 encephalopathy: A case due to a de novo deletion. Spagnoli C; Salerno GG; Iodice A; Frattini D; Pisani F; Fusco C Brain Dev; 2018 Jan; 40(1):65-68. PubMed ID: 28728838 [TBL] [Abstract][Full Text] [Related]
24. In vitro and in vivo anti-epileptic efficacy of eslicarbazepine acetate in a mouse model of KCNQ2-related self-limited epilepsy. Monni L; Kraus L; Dipper-Wawra M; Soares-da-Silva P; Maier N; Schmitz D; Holtkamp M; Fidzinski P Br J Pharmacol; 2022 Jan; 179(1):84-102. PubMed ID: 34605012 [TBL] [Abstract][Full Text] [Related]
25. Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey. Cossu A; Lo Barco T; Proietti J; Dalla Bernardina B; Cantalupo G; Ghobert L; Brambilla I; Giarola E; Costa A; De Benito T; Bethge S; Cardot S; Montwill I; Remonato E; Gramaglia S; Darra F Epilepsy Behav; 2023 May; 142():109153. PubMed ID: 36989566 [TBL] [Abstract][Full Text] [Related]
26. KCNQ2 related early-onset epileptic encephalopathies in Chinese children. Fang ZX; Zhang M; Xie LL; Jiang L; Hong SQ; Li XJ; Hu Y; Chen J J Neurol; 2019 Sep; 266(9):2224-2232. PubMed ID: 31152295 [TBL] [Abstract][Full Text] [Related]
27. Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations. Ihara Y; Tomonoh Y; Deshimaru M; Zhang B; Uchida T; Ishii A; Hirose S PLoS One; 2016; 11(2):e0150095. PubMed ID: 26910900 [TBL] [Abstract][Full Text] [Related]
28. Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. Hewson S; Puka K; Mercimek-Mahmutoglu S Am J Med Genet A; 2017 Aug; 173(8):2226-2230. PubMed ID: 28602030 [TBL] [Abstract][Full Text] [Related]
34. Vitamin B6-Responsive Epilepsy due to a Novel KCNQ2 Mutation. Klotz KA; Lemke JR; Korinthenberg R; Jacobs J Neuropediatrics; 2017 Jun; 48(3):199-204. PubMed ID: 28420012 [TBL] [Abstract][Full Text] [Related]
35. KCNQ2-DEE: developmental or epileptic encephalopathy? Berg AT; Mahida S; Poduri A Ann Clin Transl Neurol; 2021 Mar; 8(3):666-676. PubMed ID: 33616268 [TBL] [Abstract][Full Text] [Related]
36. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy]. Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474 [No Abstract] [Full Text] [Related]
37. Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy. Lee IC; Chang MY; Liang JS; Chang TM J Formos Med Assoc; 2021 Jan; 120(1 Pt 3):744-754. PubMed ID: 32863083 [TBL] [Abstract][Full Text] [Related]
38. Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. Zhang Q; Li J; Zhao Y; Bao X; Wei L; Wang J Clin Genet; 2017 May; 91(5):717-724. PubMed ID: 27779742 [TBL] [Abstract][Full Text] [Related]
39. Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy. Trivisano M; Pavia GC; Ferretti A; Fusco L; Vigevano F; Specchio N Epilepsy Behav; 2019 Jul; 96():219-223. PubMed ID: 31174070 [TBL] [Abstract][Full Text] [Related]
40. Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy. Ye J; Tang S; Miao P; Gong Z; Shu Q; Feng J; Li Y Front Mol Neurosci; 2023; 16():1205265. PubMed ID: 37497102 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]