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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: baumgartner t. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.
Baumgartner T, Carreño M, Rocamora R, Bisulli F, Boni A, Brázdil M, Horak O, Craiu D, Pereira C, Guerrini R, San Antonio-Arce V, Schulze-Bonhage A, Zuberi SM, Hallböök T, Kalviainen R, Lagae L, Nguyen S, Quintas S, Franco A, Cross JH, Walker M, Arzimanoglou A, Rheims S, Granata T, Canafoglia L, Johannessen Landmark C, Sen A, Rattihalli R, Nabbout R, Tartara E, Santos M, Rangel R, Krsek P, Marusic P, Specchio N, Braun KPJ, Smeyers P, Villanueva V, Kotulska K, Surges R. Baumgartner T, et al. Epilepsia Open. 2021 Jan 13;6(1):160-170. doi: 10.1002/epi4.12459. eCollection 2021 Mar. Epilepsia Open. 2021. PMID: 33681659 Free PMC article.
Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.
von Wrede R, Schidlowski M, Huppertz HJ, Rüber T, Ivo A, Baumgartner T, Hallmann K, Zsurka G, Helmstaedter C, Surges R, Kunz WS. von Wrede R, et al. Among authors: baumgartner t. Genes (Basel). 2022 Feb 25;13(3):429. doi: 10.3390/genes13030429. Genes (Basel). 2022. PMID: 35327983 Free PMC article.
A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies.
Strippel C, Herrera-Rivero M, Wendorff M, Tietz AK, Degenhardt F, Witten A, Schroeter C, Nelke C, Golombeck KS, Madlener M, Rüber T, Ernst L, Racz A, Baumgartner T, Widman G, Doppler K, Thaler F, Siebenbrodt K, Dik A, Kerin C, Räuber S, Gallus M, Kovac S, Grauer OM, Grimm A, Prüss H, Wickel J, Geis C, Lewerenz J, Goebels N, Ringelstein M, Menge T, Tackenberg B, Kellinghaus C, Bien CG, Kraft A, Zettl U, Ismail FS, Ayzenberg I, Urbanek C, Sühs KW, Tauber SC, Mues S, Körtvélyessy P, Markewitz R, Paliantonis A, Elger CE, Surges R, Sommer C, Kümpfel T, Gross CC, Lerche H, Wellmer J, Quesada CM, Then Bergh F, Wandinger KP, Becker AJ, Kunz WS, Meyer Zu Hörste G, Malter MP, Rosenow F, Wiendl H, Kuhlenbäumer G, Leypoldt F, Lieb W, Franke A, Meuth SG, Stoll M, Melzer N; German Network for Research on Autoimmune Encephalitis (GENERATE). Strippel C, et al. Among authors: baumgartner t. Brain. 2023 Mar 1;146(3):977-990. doi: 10.1093/brain/awac119. Brain. 2023. PMID: 35348614 Free PMC article.
276 results