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| Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
| Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology 2022 Jan . Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Denn |
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Brain : a journal of neurology 2022 1 145 (2): 555-568. Skotte Line, Fadista João, Bybjerg-Grauholm Jonas, Appadurai Vivek, Hildebrand Michael S, Hansen Thomas F, Banasik Karina, Grove Jakob, Albiñana Clara, Geller Frank, Bjurström Carmen F, Vilhjálmsson Bjarni J, Coleman Matthew, Damiano John A, Burgess Rosemary, Scheffer Ingrid E, Pedersen Ole Birger Vesterager, Erikstrup Christian, Westergaard David, Nielsen Kaspar René, Sørensen Erik, Bruun Mie Topholm, Liu Xueping, Hjalgrim Henrik, Pers Tune H, Mortensen Preben Bo, Mors Ole, Nordentoft Merete, Dreier Julie W, Børglum Anders D, Christensen Jakob, Hougaard David M, Buil Alfonso, Hviid Anders, Melbye Mads, Ullum Henrik, Berkovic Samuel F, Werge Thomas, Feenstra Bjar |
| Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). Bratislavske lekarske listy 2022 123 (7): 483-486. Ceska Katarina, Danhofer Pavlina, Horak Ondrej, Spanelova Klara, Kolar Senad, Oslejskova Hana, Aulicka Stefan |
| Response to Sodium Channel blocking Antiseizure medications and coding polymorphisms of Sodium Channel genes in Taiwanese epilepsy patients. BMC neurology 2021 Sep 21 (1): 367. Lin Chih-Hsiang, Ho Chen-Jui, Lu Yan-Ting, Tsai Meng-H |
| Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. Journal of the neurological sciences 2020 Apr 414 116808. Shibata Akiko, Kasai Mariko, Terashima Hiroshi, Hoshino Ai, Miyagawa Taku, Kikuchi Kenjiro, Ishii Atsushi, Matsumoto Hiroshi, Kubota Masaya, Hirose Shinichi, Oka Akira, Mizuguchi Masas |
| SCN1A Variants in vaccine-related febrile seizures: A prospective study. Annals of neurology 2019 Nov . Damiano J A, Deng L, Li W H, Burgess R, Schneider A L, Crawford N W, Buttery J, Gold M, Richmond P, Macartney K K, Hildebrand M S, Scheffer I E, Wood N, Berkovic S |
| Effects of UGT2B7, SCN1A and CYP3A4 on the therapeutic response of sodium valproate treatment in children with generalized seizures. Seizure 2018 Apr 58 96-100. Feng Weixing, Mei Shenghui, Zhu Leting, Yu Yazhen, Yang Weili, Gao Baoqin, Wu Xiaojuan, Zhao Zhigang, Fang Fa |
| [Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018 Feb 20 (2): 130-133. Ma Qi-Ling, Wang Bo, Chen Guang-Fu, Huang Jian-Lin, Li Yun, Cao De-Zhi, Liu Rong-Ti |
| Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
| Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. Journal of the neurological sciences 2016 Sep 368 272-6. Saitoh M, Kobayashi K, Ohmori I, Tanaka Y, Tanaka K, Inoue T, Horino A, Ohmura K, Kumakura A, Takei Y, Hirabayashi S, Kajimoto M, Uchida T, Yamazaki S, Shiihara T, Kumagai T, Kasai M, Terashima H, Kubota M, Mizuguchi |
| 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 |
| The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics 2016 Aug . Liu Aijie, Xu Xiaojing, Yang Xiaoling, Jiang Yuwu, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
| Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels. CNS neuroscience & therapeutics 2016 09 22 (9): 740-57. Baghel Ruchi, Grover Sandeep, Kaur Harpreet, Jajodia Ajay, Rawat Chitra, Srivastava Ankit, Kushwaha Suman, Agarwal Rachna, Sharma Sangeeta, Kukreti Ritushr |
| Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. Epilepsy research 2015 Aug 117 1-6. Saitoh Makiko, Ishii Atsushi, Ihara Yukiko, Hoshino Ai, Terashima Hiroshi, Kubota Masaya, Kikuchi Kenjiro, Yamanaka Gaku, Amemiya Kaoru, Hirose Shinichi, Mizuguchi Masas |
| Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Epilepsia 2015 Mar 56 (3): e26-32. Hartmann Corinna, von Spiczak Sarah, Suls Arvid, Weckhuysen Sarah, Buyse Gunnar, Vilain Catheline, Van Bogaert Patrick, De Jonghe Peter, Cook Joseph, Muhle Hiltrud, Stephani Ulrich, Helbig Ingo, Mefford Heather |
| 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 |
| Common variants associated with general and MMR vaccine-related febrile seizures.
Nature genetics 2014 Dec 46 (12): 1274-82. Feenstra Bjarke, Pasternak Björn, Geller Frank, Carstensen Lisbeth, Wang Tongfei, Huang Fen, Eitson Jennifer L, Hollegaard Mads V, Svanström Henrik, Vestergaard Mogens, Hougaard David M, Schoggins John W, Jan Lily Yeh, Melbye Mads, Hviid Ande |
| Association between two functional SNPs of SCN1A gene and efficacy of carbamazepine monotherapy for focal seizures in Chinese Han epileptic patients. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2014 May 39 (5): 433-41. Wang Ping, Zhou Qiuhong, Sheng Yanghao, Tang Beisha, Liu Zhaoqian, Zhou Boti |
| Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy. Human genetics 2014 May 133 (5): 651-9. Baum Larry, Haerian Batoul Sadat, Ng Ho-Keung, Wong Virginia C N, Ng Ping Wing, Lui Colin H T, Sin Ngai Chuen, Zhang Chunbo, Tomlinson Brian, Wong Gary Wing-Kin, Tan Hui Jan, Raymond Azman Ali, Mohamed Zahurin, Kwan Patri |
| SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. Gene 2014 Jan 533 (1): 26-31. Tang Linjun, Lu Xiaocheng, Tao Yi, Zheng Jinyu, Zhao Penglai, Li Kai, Li Lix |
| 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 |
| The SCN1A gene variants and epileptic encephalopathies. Journal of human genetics 2013 Sep 58 (9): 573-80. Parihar Rashmi, Ganesh Subramani |
| CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiology of disease 2013 Feb 50 209-17. Ohmori Iori, Ouchida Mamoru, Kobayashi Katsuhiro, Jitsumori Yoshimi, Mori Akiko, Michiue Hiroyuki, Nishiki Teiichi, Ohtsuka Yoko, Matsui Hide |
| The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Developmental medicine and child neurology 2013 Feb 55 (2): 154-61. Brunklaus Andreas, Dorris Liam, Ellis Rachael, Reavey Eleanor, Lee Elizabeth, Forbes Gordon, Appleton Richard, Cross J Helen, Ferrie Colin, Hughes Imelda, Jollands Alice, King Mary D, Livingston John, Lynch Bryan, Philip Sunny, Scheffer Ingrid E, Williams Ruth, Zuberi Sameer |
| Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. Orphanet journal of rare diseases 2013 8 (1): 176. Nabbout Rima, Chemaly Nicole, Chipaux Mathilde, Barcia Giulia, Bouis Charles, Dubouch Celia, Leunen Dorothee, Jambaqué Isabelle, Dulac Olivier, Dellatolas Georges, Chiron Catheri |
| 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 |
| Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up. CNS neuroscience & therapeutics 2012 Jul 18 (7): 566-72. Zhou Bo-Ting, Zhou Qiu-Hong, Yin Ji-Ye, Li Guo-Liang, Qu Jian, Xu Xiao-Jing, Liu Ding, Zhou Hong-Hao, Liu Zhao-Qi |
| Comprehensive analysis of the association of SCN1A gene polymorphisms with the retention rate of carbamazepine following monotherapy for new-onset focal seizures in the Chinese Han population. Clinical and experimental pharmacology & physiology 2012 Apr 39 (4): 379-84. Zhou Bo-Ting, Zhou Qiu-Hong, Yin Ji-Ye, Li Guo-Liang, Xu Xiao-Jing, Qu Jian, Liu Ding, Zhou Hong-Hao, Liu Zhao-Qi |
| Replication of association between a SCN1A splice variant and febrile seizures. Epilepsia 2011 Oct 52 (10): e135-8. Le Gal François, Salzmann Annick, Crespel Arielle, Malafosse Ala |
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- Page last updated:Jan 26, 2023
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