HuGE Literature Finder
Records 1-30
|
Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsia 2021 Apr 62 (4): 973-983. Authors are not available |
|
Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children.
Epilepsy research 2020 Oct 168 106485. Liu Maochang, Mao Junjun, Xu Hua, Wang Jing, Zhao Peiwei, Xu Qiong, Du Zhaoso |
|
Lack of association of SCN2A rs17183814 polymorphism with the efficacy of lamotrigine monotherapy in patients with focal epilepsy from Herzegovina area, Bosnia and Herzegovina.
Epilepsy research 2019 Oct 158 106221. Pejanovic-Skobic Natasa, Markovic Ivana, Bozina Nada, Basic Silv |
|
Effects of GRM4, SCN2A and SCN3B polymorphisms on antiepileptic drugs responsiveness and epilepsy susceptibility.
Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society 2019 Jul 27 (5): 731-737. Al-Eitan Laith N, Al-Dalalah Islam M, Aljamal Hanan |
|
SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.
European journal of clinical pharmacology 2019 Jan . Shi Lihong, Zhu Miaomiao, Li Huilan, Wen Zhipeng, Chen Xiaoping, Luo Jia, Lin Cong, Zhang Zanli |
|
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 |
|
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Journal of human genetics 2017 Nov . Zeng Qi, Yang Xiaoling, Zhang Jing, Liu Aijie, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
|
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Annals of neurology 2017 Mar 81 (3): 419-429. Olson Heather E, Kelly McKenna, LaCoursiere Christopher M, Pinsky Rebecca, Tambunan Dimira, Shain Catherine, Ramgopal Sriram, Takeoka Masanori, Libenson Mark H, Julich Kristina, Loddenkemper Tobias, Marsh Eric D, Segal Devorah, Koh Susan, Salman Michael S, Paciorkowski Alex R, Yang Edward, Bergin Ann M, Sheidley Beth Rosen, Poduri Annapur |
|
Polymorphisms of ABAT, SCN2A and ALDH5A1 may affect valproic acid responses in the treatment of epilepsy in Chinese.
Pharmacogenomics 2016 Dec 17 (18): 2007-2014. Li Xi, Zhang Jun, Wu Xi, Yan Han, Zhang Yin, He Ruo-Hui, Tang Yong-Jun, He Yi-Jing, Tan Dan, Mao Xiao-Yuan, Yin Ji-Ye, Liu Zhao-Qian, Zhou Hong-Hao, Liu J |
|
Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers.
Pharmacogenomics 2016 Oct . Fricke-Galindo Ingrid, Ortega-Vázquez Alberto, Monroy-Jaramillo Nancy, Dorado Pedro, Jung-Cook Helgi, Peñas-Lledó Eva, LLerena Adrián, López-López Maris |
|
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 |
|
Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.
Epilepsia 2016 Apr . Calhoun Jeffrey D, Hawkins Nicole A, Zachwieja Nicole J, Kearney Jennifer |
|
Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.
Psychiatric genetics 2015 Nov . Carroll Liam S, Woolf Rebecca, Ibrahim Yousef, Williams Hywel J, Dwyer Sarah, Walters James, Kirov George, O'Donovan Michael C, Owen Michael |
|
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 |
|
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
|
ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population.
Die Pharmazie 2015 Jun 70 (6): 416-20. Zhou Luo, Cao Yuze, Long Hongyu, Long Lili, Xu Lin, Liu Zhaoqian, Zhang Ying, Xiao |
|
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 |
|
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, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.
Pharmacogenomics 2013 Jul 14 (10): 1153-66. Haerian Batoul Sadat, Baum Larry, Kwan Patrick, Tan Hui Jun, Raymond Azman Ali, Mohamed Zahur |
|
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 |
|
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Epilepsy research 2012 Dec 102 (3): 195-200. Wang Ji-wen, Shi Xiu-yu, Kurahashi Hirokazu, Hwang Su-Kyeong, Ishii Atsushi, Higurashi Norimichi, Kaneko Sunao, Hirose Shinichi, |
|
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Epilepsia 2012 Aug 53 (8): 1387-98. Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask |
|
Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population.
Indian journal of human genetics 2011 May 17 Suppl 1 S32-40. Kumari Ritu, Lakhan Ram, Garg R K, Kalita J, Misra U K, Mittal Balr |
|
Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.
British journal of clinical pharmacology 2009 Aug 68 (2): 214-20. Lakhan Ram, Kumari Ritu, Misra Usha K, Kalita Jayanti, Pradhan Sunil, Mittal Balr |
|
Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance.
Journal of Korean medical science 2009 Feb 24 (1): 62-8. Jang Sin-Young, Kim Myeong-Kyu, Lee Kee-Ra, Park Man-Seok, Kim Byeong-Chae, Cho Ki-Hyun, Lee Min-Cheol, Kim Yo-S |
|
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 |
|
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 |
|
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
Epilepsia 2004 Feb 45 (2): 140-8. Fukuma Goryu, Oguni Hirokazu, Shirasaka Yukiyoshi, Watanabe Kazuyoshi, Miyajima Tasuku, Yasumoto Sawa, Ohfu Masaharu, Inoue Takahito, Watanachai Aruchalean, Kira Ryutaro, Matsuo Muneaki, Muranaka Hideki, Sofue Fumiko, Zhang Bo, Kaneko Sunao, Mitsudome Akihisa, Hirose Shinic |
|
Genetic variants in microsomal epoxide hydrolase influence carbamazepine dosing.
Clinical neuropharmacology 0 32 (4): 205-12. Makmor-Bakry Mohd, Sills Graeme J, Hitiris Nikolas, Butler Elaine, Wilson Elaine A, Brodie Martin |
- Page last reviewed:Oct 1, 2020
- Page last updated:Apr 15, 2021
- Content source: