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Page 1
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
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.
[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.
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
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.
[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.
[Russian experience of lacosamide (vimpat) usage in treatment of uncontrolled focal epilepsy].
Lebedeva AV, Burd SG, Belyaev OV, Vlasov PN, Dorofeeva MY, Ismailov AM, Kissin MY, Kovaleva IY, Koroleva NY, Lipatova LV, Mukhin KY, Solomatin YV, Chervyakov AV, Shikhkerimov RG, Pylaeva OA, Freidkova NV. Lebedeva AV, et al. Among authors: mukhin ky. Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(9. Vyp. 2):74-81. doi: 10.17116/jnevro20161169274-81. Zh Nevrol Psikhiatr Im S S Korsakova. 2016. PMID: 28005051 Russian.
88 results