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Page 1
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Buijsse N, et al. Among authors: jansen fe. Epilepsia Open. 2023 Dec;8(4):1300-1313. doi: 10.1002/epi4.12799. Epub 2023 Aug 18. Epilepsia Open. 2023. PMID: 37501353 Free PMC article.
Toward responsible clinical n-of-1 strategies for rare diseases.
Defelippe VM, J M W van Thiel G, Otte WM, Schutgens REG, Stunnenberg B, Cross HJ, O'Callaghan F, De Giorgis V, Jansen FE, Perucca E, Brilstra EH, Braun KPJ. Defelippe VM, et al. Among authors: jansen fe. Drug Discov Today. 2023 Oct;28(10):103688. doi: 10.1016/j.drudis.2023.103688. Epub 2023 Jun 24. Drug Discov Today. 2023. PMID: 37356616 Free article. Review.
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group. Thiele EA, et al. Among authors: jansen fe. JAMA Neurol. 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. JAMA Neurol. 2021. PMID: 33346789 Free PMC article. Clinical Trial.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: jansen fe. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes.
Luinenburg MJ, Scheper M, Sørensen FNF, Anink JJ, Van Hecke W, Korshunova I, Jansen FE, Riney K, van Eijsden P, Gosselaar P, Mills JD, Kalf RS, Zimmer TS, Broekaart DWM, Khodosevich K, Aronica E, Mühlebner A. Luinenburg MJ, et al. Among authors: jansen fe. Front Cell Neurosci. 2023 Nov 28;17:1284394. doi: 10.3389/fncel.2023.1284394. eCollection 2023. Front Cell Neurosci. 2023. PMID: 38089143 Free PMC article.
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex.
Scheper M, Sørensen FNF, Ruffolo G, Gaeta A, Lissner LJ, Anink JJ, Korshunova I, Jansen FE, Riney K, van Hecke W, Mühlebner A, Khodosevich K, Schubert D, Palma E, Mills JD, Aronica E. Scheper M, et al. Among authors: jansen fe. Acta Neuropathol. 2024 May 7;147(1):80. doi: 10.1007/s00401-024-02737-7. Acta Neuropathol. 2024. PMID: 38714540
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.
Sanders MW, Van der Wolf I, Jansen FE, Aronica E, Helmstaedter C, Racz A, Surges R, Grote A, Becker AJ, Rheims S, Catenoix H, Duncan JS, De Tisi J, Jacques TS, Cross JH, Kalviainen R, Rauramaa T, Chassoux F, Devaux BC, Di Gennaro G, Esposito V, Bodi I, Honavar M, Bien CG, Cloppenborg T, Coras R, Hamer HM, Marusic P, Kalina A, Pieper T, Kudernatsch M, Hartlieb TS, Von Oertzen TJ, Aichholzer M, Dorfmuller G, Chipaux M, Noachtar S, Kaufmann E, Schulze-Bonhage A, Scheiwe CF, Özkara C, Grunwald T, Koenig K, Guerrini R, Barba C, Buccoliero AM, Giordano F, Rosenow F, Menzler K, Garbelli R, Deleo F, Krsek P, Straka B, Arzimanoglou AA, Toulouse J, Van Paesschen W, Theys T, Pimentel J, Loução De Amorim IM, Specchio N, De Palma L, Feucht M, Scholl T, Roessler K, Toledano Delgado R, Gil-Nagel A, Raicevic S, Ristic AJ, Schijns O, Beckervordersandforth J, San Antonio-Arce V, Rumia J, Blumcke I, Braun KP; as the European Epilepsy Brain Bank Consortium (EEBB). Sanders MW, et al. Among authors: jansen fe. Neurology. 2024 Feb 27;102(4):e208007. doi: 10.1212/WNL.0000000000208007. Epub 2024 Jan 30. Neurology. 2024. PMID: 38290094 Free PMC article.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: jansen fe. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
140 results