Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Graneß, Irene"'
Autor:
Lotte, Jan, Bast, Thomas, Borusiak, Peter, Coppola, Antonietta, Cross, J. Helen, Dimova, Petia, Fogarasi, Andras, Graneß, Irene, Guerrini, Renzo, Hjalgrim, Helle, Keimer, Reinhard, Korff, Christian M., Kurlemann, Gerhard, Leiz, Steffen, Linder-Lucht, Michaela, Loddenkemper, Tobias, Makowski, Christine, Mühe, Christian, Nicolai, Joost, Nikanorova, Marina, Pellacani, Simona, Philip, Sunny, Ruf, Susanne, Sánchez Fernández, Iván, Schlachter, Kurt, Striano, Pasquale, Sukhudyan, Biayna, Valcheva, Deyana, Vermeulen, R. Jeroen, Weisbrod, Tanja, Wilken, Bernd, Wolf, Philipp, Kluger, Gerhard
Publikováno v:
In Seizure: European Journal of Epilepsy February 2016 35:106-110
Publikováno v:
Epilepsy & Behavior Reports, Vol 15, Iss, Pp 100391-(2021)
Epilepsy & Behavior Reports
Epilepsy & Behavior Reports
Highlights • Mutations of STX1B. can cause febrile and afebrile seizures. • We found a heterozygous de novo variant c.733C>T (p.Arg245*) in STX1B. • She was afebrile and presented as MAE with tonic-clonic seizures and no family history. • One
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::463d931c5dfad9b8e31a9044d43f2807
http://www.sciencedirect.com/science/article/pii/S2589986420300393
http://www.sciencedirect.com/science/article/pii/S2589986420300393
Autor:
Burghardt K; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany., Baba N; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany., Schreyer I; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany., Graneß I; SRH Wald-Klinikum Gera, Department of Pediatrics, Gera, Germany., Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Publikováno v:
Epilepsy & behavior reports [Epilepsy Behav Rep] 2020 Oct 14; Vol. 15, pp. 100391. Date of Electronic Publication: 2020 Oct 14 (Print Publication: 2021).