Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: Epilepsy and GABRA1[original query] |
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Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. Journal of genetics 0 82 (1-2): 17-21. Kapoor A, Vijai J, Ravishankar H M, Satishchandra P, Radhakrishnan K, Anand |
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. Neuroscience letters 2005 Aug 383 (3): 220-4. Ito Minako, Ohmori Iori, Nakahori Tomoyuki, Ouchida Mamoru, Ohtsuka Yo |
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Epilepsy research 2006 Oct 71 (2-3): 129-34. Ma Shaochun, Blair Marcia A, Abou-Khalil Bassel, Lagrange Andre H, Gurnett Christina A, Hedera Pet |
Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities. The Journal of clinical endocrinology and metabolism 2006 Jun 91 (6): 2432-6. Brito Vinicius Nahime, Mendonca Berenice Bilharinho, Guilhoto Laura M F F, Freitas Karina Cocco Monteiro, Arnhold Ivo J Prado, Latronico Ana Claud |
Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population. Seizure : the journal of the British Epilepsy Association 2010 Mar . Kumari R, Lakhan R, Kalita J, Misra UK, Mittal B |
Evidence for epistatic interactions in antiepileptic drug resistance. Journal of human genetics 2011 Jan 56 (1): 71-6. Kim Myeong-Kyu, Moore Jason H, Kim Jong-Ki, Cho Ki-Hyun, Cho Yong-Won, Kim Yo-Sik, Lee Min-Cheol, Kim Young-Ok, Shin Min- |
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. Pharmacogenetics and genomics 2013 Nov 23 (11): 605-10. Balan Shabeesh, Sathyan Sanish, Radha Saradalekshmi K, Joseph Vijai, Radhakrishnan Kurupath, Banerjee Moin |
Gene-wide tagging study of the effects of common genetic polymorphisms in the a subunits of the GABA(A) receptor on epilepsy treatment response. Pharmacogenomics 2013 Nov 14 (15): 1849-56. Hung Chin-Chuan, Chen Pei-Lung, Huang Wan-Min, Tai John Jen, Hsieh Tsung-Jen, Ding Shih-Torng, Hsieh Yow-Wen, Liou Horng-Hu |
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 |
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology 2016 Aug . Johannesen Katrine, Marini Carla, Pfeffer Siona, Møller Rikke S, Dorn Thomas, Niturad Christina, Gardella Elena, Weber Yvonne, Søndergård Marianne, Hjalgrim Helle, Nikanorova Mariana, Becker Felicitas, Larsen Line H G, Dahl Hans A, Maier Oliver, Mei Davide, Biskup Saskia, Klein Karl M, Reif Philipp S, Rosenow Felix, Elias Abdallah F, Hudson Cindy, Helbig Katherine L, Schubert-Bast Susanne, Scordo Maria R, Craiu Dana, Djémié Tania, Hoffman-Zacharska Dorota, Caglayan Hande, Helbig Ingo, Serratosa Jose, Striano Pasquale, De Jonghe Peter, Weckhuysen Sarah, Suls Arvid, Muru Kai, Talvik Inga, Talvik Tiina, Muhle Hiltrud, Borggraefe Ingo, Rost Imma, Guerrini Renzo, Lerche Holger, Lemke Johannes R, Rubboli Guido, Maljevic Sneza |
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 |
De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia 2016 Feb . Kodera Hirofumi, Ohba Chihiro, Kato Mitsuhiro, Maeda Toshiyuki, Araki Kaoru, Tajima Daisuke, Matsuo Muneaki, Hino-Fukuyo Naomi, Kohashi Kosuke, Ishiyama Akihiko, Takeshita Saoko, Motoi Hirotaka, Kitamura Taro, Kikuchi Atsuo, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Sasaki Masayuki, Kure Shigeo, Haginoya Kazuhiro, Saitsu Hirotomo, Matsumoto Naomic |
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 |
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 |
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 |
Association of GABAA Receptor Gene with Epilepsy Syndromes. Journal of molecular neuroscience : MN 2018 May . Bhat Musadiq Ahmad, Guru Sameer Ahmad, Mir Rashid, Waza Ajaz Ahmad, Zuberi Mariyam, Sumi Mamta Pervin, Bodeliwala Shaam, Puri Vinod, Saxena Alpa |
Genetic Association of Epilepsy and Anti-Epileptic Drugs Treatment in Jordanian Patients. Pharmacogenomics and personalized medicine 2020 10 13 503-510. Al-Eitan Laith N, Al-Dalala Islam M, Elshammari Afrah K, Khreisat Wael H, Nimiri Aseel F, Alnaamneh Adan H, Aljamal Hanan A, Alghamdi Mansour |
GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients. Seizure 2021 Oct 93 88-94. Riaz Mehwish, Abbasi Muddasir Hassan, Sheikh Nadeem, Saleem Tayyaba, Virk Ahmad Oma |
Relevance of NR1I2 variants on carbamazepine therapy in Mexican Mestizos with epilepsy at a tertiary-care hospital. Pharmacogenomics 2021 10 22 (15): 983-996. Fricke-Galindo Ingrid, Jung-Cook Helgi, Martínez-Juárez Iris E, Monroy-Jaramillo Nancy, Ortega-Vázquez Alberto, Rojas-Tomé Irma S, Dorado Pedro, Peñas-Lledó Eva, Llerena Adrián, López-López Maris |
Impact of GABA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Feb . Amjad Maryam, Tabassum Atiya, Sher Khalid, Kumar Suneel, Zehra Sitwat, Fatima Sehri |
No association of GABRA1 rs2279020 and GABRA6 rs3219151 polymorphisms with risk of epilepsy and antiepileptic drug responsiveness in Asian and Arabic populations: Evidence from a meta-analysis with trial sequential analysis. Frontiers in neurology 2022 10 13 996631. Zhang Tiejun, Yang Yi, Sima Xiuti |
Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study. Frontiers in neurology 2022 10 13 942643. Louis Shreya, Busch Robyn M, Lal Dennis, Hockings Jennifer, Hogue Olivia, Morita-Sherman Marcia, Vegh Deborah, Najm Imad, Ghosh Chaitali, Bazeley Peter, Eng Charis, Jehi Lara, Rotroff Daniel |
GABRA1-related disorders: from genetic to functional pathways. Annals of neurology 2023 8 . Elisa Musto, Vivian W Y Liao, Katrine M Johannesen, Christina D Fenger, Damien Lederer, Kavitha Kothur, Katrina Fisk, Bruce Bennetts, Pascal Vrielynck, Delphine Delaby, Berten Ceulemans, Sarah Weckhuysen, Peter Sparber, Arjan Bouman, Simone Ardern-Holmes, Christopher Troedson, Domenica I Battaglia, Himanshu Goel, Timothy Feyma, Somayeh Bakhtiari, Linda Tjoa, Martin Boxill, Nina Demina, Olga Shchagina, Elena Dadali, Michael Kruer, Gaetano Cantalupo, Ilaria Contaldo, Tilman Polster, Bertrand Isidor, Stefania M Bova, Walid Fazeli, Leen Wouters, Maria J Miranda, Francesca Darra, Elisa Pede, Diana Le Duc, Rami Abou Jamra, Sébastien Küry, Jacopo Proietti, Niamh McSweeney, Elly Brokamp, Peter Ian Andrews, Marie Gouray Garcia, Mary Chebib, Rikke S Møller, Philip K Ahring, Elena Gardel |
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing. Journal of human genetics 2023 11 . Regina Gamirova, Elena Shagimardanova, Takehiro Sato, Takayuki Kannon, Rimma Gamirova, Atsushi Taji |
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- Page last updated:Apr 22, 2024
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