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Page 1
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. Johannesen K, et al. Among authors: borggraefe i. Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12. Neurology. 2016. PMID: 27521439
First detected geographical cluster of BoDV-1 encephalitis from same small village in two children: therapeutic considerations and epidemiological implications.
Grosse L, Lieftüchter V, Vollmuth Y, Hoffmann F, Olivieri M, Reiter K, Tacke M, Heinen F, Borggraefe I, Osterman A, Forstner M, Hübner J, von Both U, Birzele L, Rohlfs M, Schomburg A, Böhmer MM, Ruf V, Cadar D, Muntau B, Pörtner K, Tappe D. Grosse L, et al. Among authors: borggraefe i. Infection. 2023 Oct;51(5):1383-1398. doi: 10.1007/s15010-023-01998-w. Epub 2023 Feb 23. Infection. 2023. PMID: 36821024 Free PMC article.
Epilepsy surgery in early infancy: A retrospective, multicenter study.
Makridis KL, Klotz KA, Ramantani G, Becker LL, San Antonio-Arce V, Syrbe S, Wagner K, Shah MJ, Thomale UW, Tietze A, Elger CE, Borggraefe I, Kaindl AM. Makridis KL, et al. Among authors: borggraefe i. Epilepsia Open. 2023 Sep;8(3):1182-1189. doi: 10.1002/epi4.12791. Epub 2023 Jul 23. Epilepsia Open. 2023. PMID: 37458529 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: borggraefe i. 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
Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.
Haberlandt E, Ensslen M, Gruber-Sedlmayr U, Plecko B, Brunner-Krainz M, Schimmel M, Schubert-Bast S, Neirich U, Philippi H, Kurleman G, Tardieu M, Wohlrab G, Borggraefe I, Rostásy K. Haberlandt E, et al. Among authors: borggraefe i. Eur J Paediatr Neurol. 2017 May;21(3):457-464. doi: 10.1016/j.ejpn.2016.11.016. Epub 2016 Dec 5. Eur J Paediatr Neurol. 2017. PMID: 28017557
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: borggraefe i. 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 patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. von Stülpnagel C, et al. Among authors: borggraefe i. Eur J Paediatr Neurol. 2017 May;21(3):530-541. doi: 10.1016/j.ejpn.2017.01.001. Epub 2017 Jan 14. Eur J Paediatr Neurol. 2017. PMID: 28109652
107 results