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Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari MS, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A. Plecko B, et al. Among authors: schmitt b. J Med Genet. 2017 Dec;54(12):809-814. doi: 10.1136/jmedgenet-2017-104521. Epub 2017 Apr 8. J Med Genet. 2017. PMID: 28391250
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A. Papuc SM, et al. Among authors: schmitt mechelke t, schmitt b. Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552426 Free PMC article.
Neonatal Seizures-Are We there Yet?
Ramantani G, Schmitt B, Plecko B, Pressler RM, Wohlrab G, Klebermass-Schrehof K, Hagmann C, Pisani F, Boylan GB. Ramantani G, et al. Among authors: schmitt b. Neuropediatrics. 2019 Oct;50(5):280-293. doi: 10.1055/s-0039-1693149. Epub 2019 Jul 24. Neuropediatrics. 2019. PMID: 31340400 Review.
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.
Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S. Plecko B, et al. Among authors: schmitt b. Neuropediatrics. 2005 Jun;36(3):200-5. doi: 10.1055/s-2005-865727. Neuropediatrics. 2005. PMID: 15944906
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
Müller A, Helbig I, Jansen C, Bast T, Guerrini R, Jähn J, Muhle H, Auvin S, Korenke GC, Philip S, Keimer R, Striano P, Wolf NI, Püst B, Thiels Ch, Fogarasi A, Waltz S, Kurlemann G, Kovacevic-Preradovic T, Ceulemans B, Schmitt B, Philippi H, Tarquinio D, Buerki S, von Stülpnagel C, Kluger G. Müller A, et al. Among authors: schmitt b. Eur J Paediatr Neurol. 2016 Jan;20(1):147-51. doi: 10.1016/j.ejpn.2015.09.001. Epub 2015 Sep 10. Eur J Paediatr Neurol. 2016. PMID: 26387070
Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis.
Gefferie SR, Maric A, Critelli H, Gueden S, Kurlemann G, Kurth S, Nosadini M, Plecko B, Ringli M, Rostásy K, Sartori S, Schmitt B, Suppiej A, Van Bogaert P, Wehrle FM, Huber R, Bölsterli BK. Gefferie SR, et al. Among authors: schmitt b. Neuroimage. 2021 Oct 1;239:118281. doi: 10.1016/j.neuroimage.2021.118281. Epub 2021 Jun 18. Neuroimage. 2021. PMID: 34147627 Free article.
757 results