HuGE Literature Finder
Records 1-30
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Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel.
Journal of human genetics 2019 Aug . Hirabayashi Kyoko, Uehara Daniela Tiaki, Abe Hidetoshi, Ishii Atsushi, Moriyama Keiji, Hirose Shinichi, Inazawa Joh |
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
American journal of human genetics 2019 Jul . , |
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Mutational screening of GABRG2 gene in Pakistani population of Punjab with generalized tonic clonic seizures and children with childhood absence epilepsy.
Journal of the Chinese Medical Association : JCMA 2018 Jun . Iqbal Muhammad Javed, Wasim Muhammad, Rashid Umer, Zeeshan Nadia, Ali Rizwan, Nayyab Sawera, Habib Sahrish, Manzoor Bushra, Zahid Noum |
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The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs.
Seizure 2018 Jun 60 39-43. Abou El Ella Soheir S, Tawfik Maha Atef, Abo El Fotoh Wafaa Moustafa M, Soliman Omar Ahmed |
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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 |
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GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population.
Archives of medical science : AMS 2018 Jan 14 (1): 157-166. Butil? Anamaria Todoran, Zazgyva Ancuta, Sin Anca Ileana, Szabo Elisabeta Raco?, Tilinca Mariana Cornel |
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Vitamin B
African health sciences 2017 Jun 17 (2): 559-565. Shakir Shakirullah, Ali Niaz, Udin Zia, Nazish Haleema, Nabi Muhamm |
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Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures.
Epilepsy research 2016 Nov 129 1-7. Hung Kun-Long, Liang Jao-Shwann, Wang Jinn-Shyan, Chen Hui-Ju, Lin Li-Ju, Lu Jyh-Fe |
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Contribution of GABRG2 Polymorphisms to Risk of Epilepsy and Febrile Seizure: a Multicenter Cohort Study and Meta-analysis.
Molecular neurobiology 2015 Oct . Haerian Batoul Sadat, Baum Larry, Kwan Patrick, Cherny Stacey S, Shin Jae-Gook, Kim Sung Eun, Han Bok-Ghee, Tan Hui Jan, Raymond Azman Ali, Tan Chong Tin, Mohamed Zahur |
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Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).
Psychiatry research 2015 Sep 229 (1-2): 580-2. Sesarini Carla V, Costa Lucas, Grañana Nora, Coto Miguel Garcia, Pallia Roberto C, Argibay Pablo |
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Rare variants in ?-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Annals of neurology 2015 Jun 77 (6): 972-86. Reinthaler Eva M, Dejanovic Borislav, Lal Dennis, Semtner Marcus, Merkler Yvonne, Reinhold Annika, Pittrich Dorothea A, Hotzy Christoph, Feucht Martha, Steinböck Hannelore, Gruber-Sedlmayr Ursula, Ronen Gabriel M, Neophytou Birgit, Geldner Julia, Haberlandt Edda, Muhle Hiltrud, Ikram M Arfan, van Duijn Cornelia M, Uitterlinden Andre G, Hofman Albert, Altmüller Janine, Kawalia Amit, Toliat Mohammad R, , Nürnberg Peter, Lerche Holger, Nothnagel Michael, Thiele Holger, Sander Thomas, Meier Jochen C, Schwarz Günter, Neubauer Bernd A, Zimprich Fri |
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The GABAA receptor ?2 subunit (R43Q) mutation in febrile seizures.
Pediatric neurology 2014 Apr 50 (4): 353-6. Hancili Suna, Önal Zehra Esra, Ata P?nar, Karatoprak Elif Yüksel, Gürbüz Tamay, Bostanc? Muharrem, Paçal Yakup, Nuho?lu Ça?atay, Ceran Öm |
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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 |
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GABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis.
Seizure 2013 Jan 22 (1): 53-8. Haerian Batoul Sadat, Baum Lar |
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Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population.
Neurology India 2013 60 (6): 6. Gitaí LL, de Almeida DH, Born JP, Gameleira FT, de Andrade TG, Machado LC, Gitaí DL |
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Mutation Screening of the ?-Aminobutyric Acid Type-A Receptor Subunit ?2 Gene in Korean Patients with Childhood Absence Epilepsy.
Journal of clinical neurology (Seoul, Korea) 2012 Dec 8 (4): 271-5. Kim Young Ok, Kim Myeong-Kyu, Nam Tai-Seung, Jang Shin Young, Park Ki Won, Kim Eun Young, Rho Young Il, Woo Young Jo |
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GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures.
Indian journal of pediatrics 2012 Nov 79 (11): 1514-6. Salam Sanaa M Abdel, Rahman Hadeel M A, Karam Rehab |
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Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.
Genetic testing and molecular biomarkers 2012 Jun 16 (6): 550-7. Ponnala Shivani, Chaudhari Jaydip Ray, Jaleel Momin Abdul, Bhiladvala Dilnawaz, Kaipa Prabhakar Rao, Das Undurti N, Hasan Qurratula |
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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 |
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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- |
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Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.
Journal of human genetics 2010 Jun 55 (6): 375-8. Shi Xiuyu, Huang Ming-Chih, Ishii Atsushi, Yoshida Shuichi, Okada Motohiro, Morita Kohtaro, Nagafuji Hiroshi, Yasumoto Sawa, Kaneko Sunao, Kojima Toshio, Hirose Shinic |
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Association of alpha subunit of GABA(A) 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 |
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Genetic susceptibility to febrile seizures: case-control association studies.
Brain & development 2010 Jan 32 (1): 57-63. Kira Ryutaro, Ishizaki Yoshito, Torisu Hiroyuki, Sanefuji Masafumi, Takemoto Megumi, Sakamoto Kanji, Matsumoto Shigetaka, Yamaguchi Yui, Yukaya Naoko, Sakai Yasunari, Gondo Kenjiro, Hara Toshi |
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Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
Clinical genetics 2009 Jun 75 (6): 579-81. Orrico A, Galli L, Grosso S, Buoni S, Pianigiani R, Balestri P, Sorrentino |
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Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Epilepsia 2009 Apr 50 (4): 953-6. Sijben Angelique E J, Sithinamsuwan Pasiri, Radhakrishnan Ashalata, Badawy Radwa A B, Dibbens Leanne, Mazarib Aziz, Lev Dorit, Lerman-Sagie Tally, Straussberg Rachel, Berkovic Samuel F, Scheffer Ingrid |
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A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
Neurobiology of disease 2008 Dec 32 (3): 349-54. Ohmori Iori, Ouchida Mamoru, Miki Takafumi, Mimaki Nobuyoshi, Kiyonaka Shigeki, Nishiki Teiichi, Tomizawa Kazuhito, Mori Yasuo, Matsui Hide |
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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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Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.
Pediatric neurology 2007 Jan 36 (1): 40-4. Chou I-Ching, Lee Cheng-Chun, Tsai Chang-Hai, Tsai Yuhsin, Wan Lei, Hsu Yu-An, Li Tsai-Chung, Tsai Fuu-J |
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Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs.
Epilepsy research 2006 Aug 70 (2-3): 229-38. Kinirons Peter, Cavalleri Gianpiero L, Shahwan Amre, Wood Nicholas W, Goldstein David B, Sisodiya Sanjay M, Delanty Norman, Doherty Colin |
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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 |
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Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures.
Pediatric research 2003 Jul 54 (1): 26-9. Chou I-Ching, Peng Ching-Tien, Huang Chao-Ching, Tsai Jeffrey J P, Tsai Fuu-Jen, Tsai Chang-H |
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Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.
Neuroscience letters 2003 Jun 343 (2): 117-20. Nakayama Junko, Hamano Kenzo, Noguchi Emiko, Horiuchi Yasue, Iwasaki Nobuaki, Ohta Masayasu, Nakahara Satoko, Naoi Takayuki, Matsui Akira, Arinami Tad |
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No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
Epilepsy research 2003 Mar 53 (3): 196-200. Madia Francesca, Gennaro Elena, Cecconi Massimiliano, Buti Daniela, Capovilla Giuseppe, Dalla Bernardina Bernardo, Elia Maurizio, Ferrari Annarita, Fontana Elena, Gaggero Roberto, Giannotta Melania, Giordano Lucio, Granata Tiziana, La Selva Lorita, Luisa Lispi Maria, Santucci Margherita, Vanadia Francesca, Veggiotti Pierangelo, Vigliano Piernanda, Viri Maurizio, Dagna Bricarelli Franca, Bianchi Amedeo, Zara Federi |
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A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
Archives of neurology 2002 Jul 59 (7): 1137-41. Kananura Colette, Haug Karsten, Sander Thomas, Runge Uwe, Gu Wenli, Hallmann Kerstin, Rebstock Johannes, Heils Armin, Steinlein Ortrud |
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Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population.
Annals of Indian Academy of Neurology 0 19 (2): 236-41. Dixit Aparna Banerjee, Banerjee Jyotirmoy, Ansari Abuzar, Tripathi Manjari, Chandra Sarat |
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- Page last updated:Aug 05, 2020
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