Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Epilepsy and SLC2A1[original query] |
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain : a journal of neurology 2010 Mar 133 (Pt 3): 655-70. Leen Wilhelmina G, Klepper Joerg, Verbeek Marcel M, Leferink Maike, Hofste Tom, van Engelen Baziel G, Wevers Ron A, Arthur Todd, Bahi-Buisson Nadia, Ballhausen Diana, Bekhof Jolita, van Bogaert Patrick, Carrilho Inês, Chabrol Brigitte, Champion Michael P, Coldwell James, Clayton Peter, Donner Elizabeth, Evangeliou Athanasios, Ebinger Friedrich, Farrell Kevin, Forsyth Rob J, de Goede Christian G E L, Gross Stephanie, Grunewald Stephanie, Holthausen Hans, Jayawant Sandeep, Lachlan Katherine, Laugel Vincent, Leppig Kathy, Lim Ming J, Mancini Grazia, Marina Adela Della, Martorell Loreto, McMenamin Joe, Meuwissen Marije E C, Mundy Helen, Nilsson Nils O, Panzer Axel, Poll-The Bwee T, Rauscher Christian, Rouselle Christophe M R, Sandvig Inger, Scheffner Thomas, Sheridan Eamonn, Simpson Neil, Sykora Parol, Tomlinson Richard, Trounce John, Webb David, Weschke Bernhard, Scheffer Hans, Willemsen Michél |
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia 2012 Dec 53 (12): e204-7. Arsov Todor, Mullen Saul A, Damiano John A, Lawrence Kate M, Huh Linda L, Nolan Melinda, Young Helen, Thouin Anaïs, Dahl Hans-Henrik M, Berkovic Samuel F, Crompton Douglas E, Sadleir Lynette G, Scheffer Ingrid |
No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3. JIMD reports 2014 12 115-20. Bizec C Le, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot |
The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy research 2013 Jan . Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL, Dahl HA, Brusgaard K, Neubauer B, De Jonghe P, Tommerup N, Stephani U, Hjalgrim H, Møller RS |
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel. Frontiers in neurology 2018 7 9 515. Tsai Meng-Han, Chan Chung-Kin, Chang Ying-Chao, Lin Chih-Hsiang, Liou Chia-Wei, Chang Wen-Neng, Ng Ching-Ching, Lim Kheng-Seang, Hwang Daw-Ya |
Genetic generalized epilepsies. Epilepsia 2018 5 59 (6): 1148-1153. Mullen Saul A, Berkovic Samuel F, |
Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia. Epileptic disorders : international epilepsy journal with videotape 2018 Oct 20 (5): 396-400. Alt?okka-Uzun Güne?, Özdemir Özkan, U?ur-??eri Sibel, Bebek Nerses, Gürses Candan, Özbek U?ur, Baykan Bet |
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. Seizure 2019 8 71 222-228. Kim Soo Yeon, Jang Se Song, Kim Jong-Il, Kim Hunmin, Hwang Hee, Choi Ji Eun, Chae Jong-Hee, Kim Ki Joong, Lim Byung Ch |
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population. Human genetics 2021 11 141 (1): 81-99. Mir Ali, Almudhry Montaha, Alghamdi Fouad, Albaradie Raidah, Ibrahim Mona, Aldurayhim Fatimah, Alhedaithy Abdullah, Alamr Mushari, Bawazir Maryam, Mohammad Sahar, Abdelhay Salma, Bashir Shahid, Housawi Yous |
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique. Balkan medical journal 2022 11 40 (1): 13-20. Atl? Engin, Gürkan Hakan, Güldiken Babürhan, Eker Damla, Yalç?ntepe Sinem, Demir Selma, Atl? Emine ?kb |
Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
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- Page last updated:Apr 22, 2024
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