Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 51 Records) |
| Query Trace: Juvenile Myoclonic Epilepsy[original query] |
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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 |
| Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis. Gene 2013 Sep 526 (2): 2. Balan S, Lekshmi S, Radha K, Sathyan S, Vijai J, Banerjee M, Radhakrishnan K |
| 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 |
| PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy. Epilepsy & behavior : E&B 2014 Jul 36 82-5. Santos Bruna, Marques Thalita, Malta Maísa, Gameleira Fernando, Secolin Rodrigo, Andrade Tiago, Gitaí Lívia, Gitaí Dani |
| Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance. PloS one 2014 9 (2): e89253. Balan Shabeesh, Bharathan Sumitha Prameela, Vellichiramal Neetha Nanoth, Sathyan Sanish, Joseph Vijai, Radhakrishnan Kurupath, Banerjee Moin |
| Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study. Acta neurologica Belgica 2015 Sep 115 (3): 247-51. Esmail Eman H, Labib Dalia M, Rabie Walaa |
| Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry. Epilepsia 2015 Feb 56 (2): 188-94. Subaran Ryan L, Conte Juliette M, Stewart William C L, Greenberg David |
| Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population. In vivo (Athens, Greece) 0 28 (6): 1193-6. Yapijakis Christos, Gatzonis Stergios, Youroukos Sotirios, Kollia Vasiliki, Karachristianou Stella, Anagnostouli Mar |
| Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy. Arquivos de neuro-psiquiatria 2015 Apr 73 (4): 289-92. Born João Paulo Lopes, Santos Bruna Priscila dos, Secolin Rodrigo, Gameleira Fernando Tenório, Andrade Tiago Gomes de, Machado Luciana Cláudia Herculano, Gitaí Lívia Leite Góes, Gitaí Daniel Leite Gó |
| No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. Epilepsia 2015 Apr 56 (4): e40-3. Mumoli Laura, Tarantino Patrizia, Michelucci Roberto, Bianchi Amedeo, Labate Angelo, Franceschetti Silvana, Marini Carla, Striano Pasquale, Gagliardi Monica, Ferlazzo Edoardo, Sofia Vito, Pennese Loredana, Annesi Grazia, Aguglia Umberto, Guerrini Renzo, Zara Federico, Gambardella Antonio, |
| 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 |
| EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jul . Bailey Julia N, Patterson Christopher, de Nijs Laurence, Durón Reyna M, Nguyen Viet-Huong, Tanaka Miyabi, Medina Marco T, Jara-Prado Aurelio, Martínez-Juárez Iris E, Ochoa Adriana, Molina Yolli, Suzuki Toshimitsu, Alonso María E, Wight Jenny E, Lin Yu-Chen, Guilhoto Laura, Targas Yacubian Elza Marcia, Machado-Salas Jesús, Daga Andrea, Yamakawa Kazuhiro, Grisar Thierry M, Lakaye Bernard, Delgado-Escueta Antonio |
| 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 |
| Gain-of-function HCN2 variants in genetic epilepsy. Human mutation 2017 Oct . Li Melody, Maljevic Snezana, Phillips A Marie, Petrovski Slave, Hildebrand Michael S, Burgess Rosemary, Mount Therese, Zara Federico, Striano Pasquale, Schubert Julian, Thiele Holger, Nürnberg Peter, Wong Michael, Weisenberg Judith L, Thio Liu Lin, Lerche Holger, Scheffer Ingrid E, Berkovic Samuel F, Petrou Steven, Reid Christopher |
| Case-control pharmacogenetic study of HCN1/HCN2 variants and genetic generalized epilepsies. Clinical and experimental pharmacology & physiology 2017 Oct . Wu Shu-Zhi, Ye Hua, Yang Xiao-Guo, Lu Zhi-Li, Qu Qiang, Qu Ji |
| Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes. Neurogenetics 2018 6 19 (3): 165-178. Landoulsi Zied, Laatar Fatma, Noé Eric, Mrabet Saloua, Ben Djebara Mouna, Achaz Guillaume, Nava Caroline, Baulac Stéphanie, Kacem Imen, Gargouri-Berrechid Amina, Gouider Riadh, Leguern Er |
| Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PloS one 2018 13 (6): e0199321. Lee Cha Gon, Lee Jeehun, Lee Munhya |
| DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians. Epilepsia 2018 4 59 (5): 1011-1019. Pathak Shilpa, Miller James, Morris Emily C, Stewart William C L, Greenberg David |
| Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome. Journal of medical genetics 2019 9 57 (3): 151-159. Fanella Martina, Frascarelli Marianna, Lambiase Caterina, Morano Alessandra, Unolt Marta, Liberati Natascia, Fattouch Jinane, Buzzanca Antonino, Accinni Tommaso, Ceccanti Marco, Viganò Alessandro, Biondi Massimo, Colonnese Claudio, Giallonardo Anna Teresa, Di Fabio Fabio, Pizzuti Antonio, Di Bonaventura Carlo, Berardelli Alfre |
| No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. Epilepsia 2019 2 60 (5): e31-e36. Schulz Herbert, Ruppert Ann-Kathrin, Zara Federico, Madia Francesca, Iacomino Michele, S Vari Maria, Balagura Ganna, Minetti Carlo, Striano Pasquale, Bianchi Amedeo, Marini Carla, Guerrini Renzo, Weber Yvonne G, Becker Felicitas, Lerche Holger, Kapser Claudia, Schankin Christoph J, Kunz Wolfram S, Møller Rikke S, Oliver Karen L, Bellows Susannah T, Mullen Saul A, Berkovic Samuel F, Scheffer Ingrid E, Caglayan Hande, Ozbek Ugur, Hoffmann Per, Schramm Sara, Tsortouktzidis Despina, Becker Albert J, Sander Thom |
| Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 11 41 (3): 591-598. Chan Chung-Kin, Low Joyce Siew-Yong, Lim Kheng-Seang, Low Siew-Kee, Tan Chong-Tin, Ng Ching-Chi |
| Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy. Frontiers in integrative neuroscience 2020 9 14 45. Stefani Stefani, Kousiappa Ioanna, Nicolaou Nicoletta, Papathanasiou Eleftherios S, Oulas Anastasis, Fanis Pavlos, Neocleous Vassos, Phylactou Leonidas A, Spyrou George M, Papacostas Savvas |
| Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy. Epilepsy & behavior : E&B 2020 11 112 107469. Gonsales Marina C, Ribeiro Patrícia A O, Betting Luiz E, Alvim Marina K M, Guerreiro Carlos M, Yasuda Clarissa L, Gitaí Daniel L G, Cendes Fernando, Lopes-Cendes Isc |
| Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK. International journal of molecular sciences 2021 8 22 (16): . Salvati Kathryn A, Mason Ashley J, Gailey Casey D, Wang Eric J, Fu Zheng, Beenhakker Mark |
| Association Analysis of Candidate Variants in Admixed Brazilian Patients With Genetic Generalized Epilepsies. Frontiers in genetics 2021 12 672304. Kaibara Felipe S, de Araujo Tânia K, Araujo Patricia A O R A, Alvim Marina K M, Yasuda Clarissa L, Cendes Fernando, Lopes-Cendes Iscia, Secolin Rodri |
| Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients. BioMed research international 2021 5 2021 7509825. Saleem Tayyaba, Mustafa Arooj, Sheikh Nadeem, Mukhtar Maryam, Irfan Mavra, Suqaina Saira Kain |
| Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy. Frontiers in neurology 2021 11 12 738272. Dahawi Maha, Elmagzoub Mohamed S, A Ahmed Elhami, Baldassari Sara, Achaz Guillaume, Elmugadam Fatima A, Abdelgadir Wasma A, Baulac Stéphanie, Buratti Julien, Abdalla Omer, Gamil Sahar, Alzubeir Maha, Abubaker Rayan, Noé Eric, Elsayed Liena, Ahmed Ammar E, Leguern Er |
| Risk factors of paradoxical reactions to anti-seizure medication in genetic generalized epilepsy. Epilepsy research 2021 1 170 106547. Gesche Joanna, Hjalgrim Helle, Rubboli Guido, Beier Christoph Patri |
| Structural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles. Epilepsy & behavior : E&B 2023 6 144 109282. Jyothinath Kothapalli, Venkateswara Prasad Uppu, Manne Munikumar, S V Kshirsagar, Shaik Afshan Jabeen, Gopalam Sivanaraya |
| Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy. Neurogenetics 2023 4 . Lin Zhi-Jian, Huang Bi-Xia, Su Li-Fang, Zhu Sheng-Yin, He Jun-Wei, Chen Guo-Zhang, Lin Peng-Xi |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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