Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Sclerosis and SCN1A[original query] |
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| Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis. Epilepsy research 2012 Sep 101 (3): 288-92. Balan Shabeesh, Vellichirammal Neetha Nanoth, Banerjee Moinak, Radhakrishnan Kurupa |
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain : a journal of neurology 2013 Oct 136 (Pt 10): 3140-50. Kasperaviciute Dalia, Catarino Claudia B, Matarin Mar, Leu Costin, Novy Jan, Tostevin Anna, Leal Bárbara, Hessel Ellen V S, Hallmann Kerstin, Hildebrand Michael S, Dahl Hans-Henrik M, Ryten Mina, Trabzuni Daniah, Ramasamy Adaikalavan, Alhusaini Saud, Doherty Colin P, Dorn Thomas, Hansen Jörg, Krämer Günter, Steinhoff Bernhard J, Zumsteg Dominik, Duncan Susan, Kälviäinen Reetta K, Eriksson Kai J, Kantanen Anne-Mari, Pandolfo Massimo, Gruber-Sedlmayr Ursula, Schlachter Kurt, Reinthaler Eva M, Stogmann Elisabeth, Zimprich Fritz, Théâtre Emilie, Smith Colin, O'Brien Terence J, Meng Tan K, Petrovski Slave, Robbiano Angela, Paravidino Roberta, Zara Federico, Striano Pasquale, Sperling Michael R, Buono Russell J, Hakonarson Hakon, Chaves João, Costa Paulo P, Silva Berta M, da Silva António M, de Graan Pierre N E, Koeleman Bobby P C, Becker Albert, Schoch Susanne, von Lehe Marec, Reif Philipp S, Rosenow Felix, Becker Felicitas, Weber Yvonne, Lerche Holger, Rössler Karl, Buchfelder Michael, Hamer Hajo M, Kobow Katja, Coras Roland, Blumcke Ingmar, Scheffer Ingrid E, Berkovic Samuel F, Weale Michael E, , Delanty Norman, Depondt Chantal, Cavalleri Gianpiero L, Kunz Wolfram S, Sisodiya Sanjay |
| Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2017 Nov 1-4. Hewson Stacy, Brunga Ledia, Ojeda Matilde Fernandez, Imhof Elizabeth, Patel Jaina, Zak Maria, Donner Elizabeth J, Kobayashi Jeff, Salomons Gajja S, Mercimek-Andrews Saad |
| 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 |
| 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 |
| Modulation of GABAergic dysfunction due to SCN1A mutation linked to Hippocampal Sclerosis. Annals of clinical and translational neurology 2020 8 7 (9): 1726-1731. Ruffolo Gabriele, Martinello Katiuscia, Labate Angelo, Cifelli Pierangelo, Fucile Sergio, Di Gennaro Giancarlo, Quattrone Andrea, Esposito Vincenzo, Limatola Cristina, Giangaspero Felice, Aronica Eleonora, Palma Eleonora, Gambardella Anton |
| Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. Brain : a journal of neurology 2021 6 144 (12): 3623-3634. Zou Dongfang, Wang Lin, Liao Jianxiang, Xiao Hongdou, Duan Jing, Zhang Tongda, Li Jianbiao, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Zhan Nianji, Yang Ying, Ye Jingyu, Chen Fang, Zhu Shida, Wen Feiqiu, Guo Ji |
| Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology. Frontiers in neurology 2022 9 13 951850. Xie Han, Ma Jiayi, Ji Taoyun, Liu Qingzhu, Cai Lixin, Wu |
| Use of perampanel in children with refractory epilepsy of genetic aetiology. Epileptic disorders : international epilepsy journal with videotape 2022 6 24 (4): 687-695. Qu Rui, Dai Yuanyuan, Qu Xiangju, Li Yan, Shao Xuejun, Zhou Rui, Zhu Yali, Chen Xuq |
| SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility. Acta neuropathologica 2022 5 144 (1): 107-127. Silvennoinen Katri, Gawel Kinga, Tsortouktzidis Despina, Pitsch Julika, Alhusaini Saud, van Loo Karen M J, Picardo Richard, Michalak Zuzanna, Pagni Susanna, Martins Custodio Helena, Mills James, Whelan Christopher D, de Zubicaray Greig I, McMahon Katie L, van der Ent Wietske, Kirstein-Smardzewska Karolina J, Tiraboschi Ettore, Mudge Jonathan M, Frankish Adam, Thom Maria, Wright Margaret J, Thompson Paul M, Schoch Susanne, Becker Albert J, Esguerra Camila V, Sisodiya Sanjay |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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