Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Seizures and STXBP1[original query] |
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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia 2013 May 54 (5): e74-80. Weckhuysen Sarah, Holmgren Philip, Hendrickx Rik, Jansen Anna C, Hasaerts Daniele, Dielman Charlotte, de Bellescize Julitta, Boutry-Kryza Nadia, Lesca Gaetan, Von Spiczak Sarah, Helbig Ingo, Gill Deepak, Yendle Simone, Møller Rikke S, Klitten Laura, Korff Christian, Godfraind Catherine, Van Rijckevorsel Kenou, De Jonghe Peter, Hjalgrim Helle, Scheffer Ingrid E, Suls Arv |
Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain & development 2015 Sep . Yamamoto Toshiyuki, Shimojima Keiko, Yano Tamami, Ueda Yuki, Takayama Rumiko, Ikeda Hiroko, Imai Katsu |
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular syndromology 2016 Sep 7 (4): 210-219. Møller Rikke S, Larsen Line H G, Johannesen Katrine M, Talvik Inga, Talvik Tiina, Vaher Ulvi, Miranda Maria J, Farooq Muhammad, Nielsen Jens E K, Svendsen Lene Lavard, Kjelgaard Ditte B, Linnet Karen M, Hao Qin, Uldall Peter, Frangu Mimoza, Tommerup Niels, Baig Shahid M, Abdullah Uzma, Born Alfred P, Gellert Pia, Nikanorova Marina, Olofsson Kern, Jepsen Birgit, Marjanovic Dragan, Al-Zehhawi Lana I K, Peñalva Sofia J, Krag-Olsen Bente, Brusgaard Klaus, Hjalgrim Helle, Rubboli Guido, Pal Deb K, Dahl Hans |
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Molecular genetics & genomic medicine 2017 Sep 5 (5): 495-507. Suri Mohnish, Evers Jochem M G, Laskowski Roman A, O'Brien Sinead, Baker Kate, Clayton-Smith Jill, Dabir Tabib, Josifova Dragana, Joss Shelagh, Kerr Bronwyn, Kraus Alison, McEntagart Meriel, Morton Jenny, Smith Audrey, Splitt Miranda, Thornton Janet M, , Wright Caroline |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy. Genes, brain, and behavior 2018 6 17 (8): e12492. Li T, Cheng M, Wang J, Hong S, Li M, Liao S, Xie L, Jiang |
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou P, He N, Zhang J-W, Lin Z-J, Wang J, Yan L-M, Meng H, Tang B, Li B-M, Liu X-R, Shi Y-W, Zhai Q-X, Yi Y-H, Liao W |
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. BioMed research international 2019 2019 4872101. Al Mehdi Krami, Fouad Benhnini, Zouhair Elkarhat, Boutaina Belkady, Yassine Naasse, Chaimaa Ait El Cadi, Najat Sifeddine, Hassan Rouba, Rachida Roky, Abdelhamid Barakat, Halima Nahi |
Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients. Medicina 2022 12 82 (6): 856-865. Juanes Matías, Loos Mariana, Reyes Gabriela, Veneruzzo Gabriel, García Francisco Martín, Aschettino Giovanna, Calligaris Silvana, Martín María Eugenia, Foncuberta María Eugenia, Alonso Cristina N, Caraballo Roberto |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
Long-term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6?months of life. Epilepsia open 2024 1 . Tianyu Song, Jie Deng, Chunhong Chen, Xiaohui Wang, Tongli Han, Xu Wang, Tie Fang, Xiaojuan Tian, Fang Fa |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
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