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KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC. Millichap JJ, et al. Among authors: cooper ec. Neurol Genet. 2016 Aug 22;2(5):e96. doi: 10.1212/NXG.0000000000000096. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27602407 Free PMC article.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Mulkey SB, et al. Among authors: cooper ec. Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31. Epilepsia. 2017. PMID: 28139826 Free PMC article.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Sands TT, et al. Among authors: cooper ec. Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26. Ann Neurol. 2019. PMID: 31177578 Free article.
Adult phenotype of KCNQ2 encephalopathy.
Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, Møller RS, Cooper E, Weckhuysen S. Boets S, et al. J Med Genet. 2022 Jun;59(6):528-535. doi: 10.1136/jmedgenet-2020-107449. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811133
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Bayat A, Iavarone S, Miceli F, Jakobsen AV, Johannesen KM, Nikanorova M, Ploski R, Szymanska K, Flamini R, Cooper EC, Weckhuysen S, Taglialatela M, Møller RS. Bayat A, et al. Among authors: cooper ec. Neurotherapeutics. 2024 Jan;21(1):e00296. doi: 10.1016/j.neurot.2023.10.006. Epub 2023 Dec 19. Neurotherapeutics. 2024. PMID: 38241158 Free PMC article.
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