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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. Among authors: cooper ec. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 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.
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
Miceli F, Carotenuto L, Barrese V, Soldovieri MV, Heinzen EL, Mandel AM, Lippa N, Bier L, Goldstein DB, Cooper EC, Cilio MR, Taglialatela M, Sands TT. Miceli F, et al. Among authors: cooper ec. Front Physiol. 2020 Sep 4;11:1040. doi: 10.3389/fphys.2020.01040. eCollection 2020. Front Physiol. 2020. PMID: 33013448 Free PMC 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
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Müller P, Takacs DS, Hedrich UBS, Coorg R, Masters L, Glinton KE, Dai H, Cokley JA, Riviello JJ, Lerche H, Cooper EC. Müller P, et al. Among authors: cooper ec. Ann Clin Transl Neurol. 2023 Apr;10(4):656-663. doi: 10.1002/acn3.51742. Epub 2023 Feb 15. Ann Clin Transl Neurol. 2023. PMID: 36793218 Free PMC article.
88 results