HuGE Literature Finder
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Records 1-14
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Neurology 2013 Sep 81 (11): 992-8. Nakamura Kazuyuki, Kato Mitsuhiro, Osaka Hitoshi, Yamashita Sumimasa, Nakagawa Eiji, Haginoya Kazuhiro, Tohyama Jun, Okuda Mitsuko, Wada Takahito, Shimakawa Shuichi, Imai Katsumi, Takeshita Saoko, Ishiwata Hisako, Lev Dorit, Lerman-Sagie Tally, Cervantes-Barragán David E, Villarroel Camilo E, Ohfu Masaharu, Writzl Karin, Gnidovec Strazisar Barbara, Hirabayashi Shinichi, Chitayat David, Myles Reid Diane, Nishiyama Kiyomi, Kodera Hirofumi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Hayasaka Kiyoshi, Matsumoto Naomichi, Saitsu Hiroto |
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Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Epilepsia 2013 May 54 (5): e86-9. Heron Sarah E, Ong Yeh Sze, Yendle Simone C, McMahon Jacinta M, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne |
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Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance.
Epilepsia 2013 Jan . Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglilatela M, Coviello DA, Vigevano F, Minetti C |
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Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.
Pharmacogenetics and genomics 2008 Nov 18 (11): 989-98. Kwan Patrick, Poon Wai Sang, Ng Ho-Keung, Kang David E, Wong Virginia, Ng Ping Wing, Lui Colin H T, Sin Ngai Chuen, Wong Ka S, Baum Lar |
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Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures.
Journal of child neurology 2007 Jul 22 (7): 907-10. Volzone Anna, Rizzo Renata, Gagliano Antonella, Palmarino Mariella, Lucarelli Paola, Arpino Carla, Curatolo Pao |
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Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures.
Journal of child neurology 2007 Jun 22 (6): 714-9. Xiumin Wang , Meichun Xu , Lizhong D |
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Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.
Neuroscience letters 2002 Aug 329 (2): 249-51. Nakayama Junko, Yamamoto Nao, Hamano Kenzo, Iwasaki Nobuaki, Ohta Masayasu, Nakahara Satoko, Horigome Yumi, Nakahara Chieko, Noguchi Emiko, Shiono Junko, Shimakura Yae, Yamakawa-Kobayashi Kimiko, Matsui Akira, Arinami Tad |
- Page last reviewed:Jul 30, 2019
- Page last updated:Oct 10, 2019
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