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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Møller RS, et al. Among authors: mukhin k. Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4. Neurology. 2017. PMID: 28053010 Free PMC article.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Héron D, Kluger G, Depienne C. Mignot C, et al. Among authors: mukhin k. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989088
[Early infantile epileptic encephalopathy type 14: three cases of epilepsy in infancy with migrating focal seizures due to KCNT1 mutations].
Kholin AA, Zavadenko NN, Fedonyuk ID, Antonets AV, Mukhin KY, Malov AG, Vshivkov MI, Anisimov GV, Il'ina ES. Kholin AA, et al. Among authors: mukhin ky. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(7. Vyp. 2):74-82. doi: 10.17116/hirurgia20190715. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 31532594 Russian.
Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua: a European survey and analysis of 65 cases.
Mameniskiene R, Bast T, Bentes C, Canevini MP, Dimova P, Granata T, Høgenhaven H, Jakubi BJ, Marusic P, Melikyan G, Michelucci R, Mukhin KY, Oehl B, Ragona F, Rossetti AO, Rubboli G, Schubert S, Stephani U, Strobel J, Vignoli A, Zarubova J, Wolf P. Mameniskiene R, et al. Epilepsia. 2011 Jun;52(6):1168-76. doi: 10.1111/j.1528-1167.2010.02974.x. Epub 2011 Feb 14. Epilepsia. 2011. PMID: 21320117 Free article.
Perampanel as precision therapy in rare genetic epilepsies.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, Ceulemans B, Coppola A, Di Bonaventura C, Feucht M, Fuchs A, Gröppel G, Heimer G, Herdt B, Kulikova S, Mukhin K, Nicassio S, Orsini A, Panagiotou M, Pringsheim M, Puest B, Pylaeva O, Ramantani G, Tsekoura M, Ricciardelli P, Lerman Sagie T, Stark B, Striano P, van Baalen A, De Wachter M, Cerulli Irelli E, Cuccurullo C, von Stülpnagel C, Russo A. Nissenkorn A, et al. Among authors: mukhin k. Epilepsia. 2023 Apr;64(4):866-874. doi: 10.1111/epi.17530. Epub 2023 Feb 20. Epilepsia. 2023. PMID: 36734057
[Epilepsy in Angelman syndrome].
Bobylova MY, Mukhin KY, Kuzmich GV, Glukhova LY, Pylayeva OA. Bobylova MY, et al. Among authors: mukhin ky. Zh Nevrol Psikhiatr Im S S Korsakova. 2022;122(7):100-105. doi: 10.17116/jnevro2022122071100. Zh Nevrol Psikhiatr Im S S Korsakova. 2022. PMID: 35904299 Russian.
[Febrile children's convulsions].
Dolinina AF, Gromova LL, Mukhin KY. Dolinina AF, et al. Among authors: mukhin ky. Zh Nevrol Psikhiatr Im S S Korsakova. 2015;115(3):86-88. doi: 10.17116/jnevro20151153186-88. Zh Nevrol Psikhiatr Im S S Korsakova. 2015. PMID: 26120989 Review. Russian.
88 results