Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 155 Records) |
Query Trace: Epilepsy and LARGE[original query] |
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Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy.
Frontiers in neuroscience 2021 8 15 722592. Song Meng, Liu Jiewei, Yang Yongfeng, Lv Luxian, Li Wenqiang, Luo Xiong-Ji |
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia. Journal of the American Heart Association 2021 8 10 (17): e019887. Moya-Mendez Mary E, Ogbonna Chiagoziem, Ezekian Jordan E, Rosamilia Michael B, Prange Lyndsey, de la Uz Caridad, Kim Jeffrey J, Howard Taylor, Garcia John, Nussbaum Robert, Truty Rebecca, Callis Thomas E, Funk Emily, Heyes Matthew, Dear Guy de Lisle, Carboni Michael P, Idriss Salim F, Mikati Mohamad A, Landstrom Andrew |
Seizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations. Neurology 2021 8 97 (12): e1210-6. Fox Christine K, Nelson Jeffrey, McCulloch Charles E, Weinsheimer Shantel, Pawlikowska Ludmila, Hart Blaine, Mabray Marc, Zafar Atif, Morrison Leslie, Zabramski Joseph M, Akers Amy, Kim Hel |
Quantitative psychopathology of interictal psychosis in epilepsy; interaction between epilepsy-related and psychosis-general effects. Epilepsy & behavior : E&B 2021 8 123 108214. Ito Masumi, Adachi Naoto, Okazaki Mitsutoshi, Hara Koichiro, Adachi Takuya, Matsubara Ryoji, Sekimoto Masanori, Kato Masaaki, Onuma Teiic |
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population. Human genetics 2021 11 141 (1): 81-99. Mir Ali, Almudhry Montaha, Alghamdi Fouad, Albaradie Raidah, Ibrahim Mona, Aldurayhim Fatimah, Alhedaithy Abdullah, Alamr Mushari, Bawazir Maryam, Mohammad Sahar, Abdelhay Salma, Bashir Shahid, Housawi Yous |
The persistence of seizures after tumor resection negatively affects survival in low-grade glioma patients: a clinical retrospective study. Journal of neurology 2021 10 269 (5): 2627-2633. Mazzucchi Edoardo, Vollono Catello, Pauletto Giada, Lettieri Christian, Budai Riccardo, Gigli Gian Luigi, Sabatino Giovanni, La Rocca Giuseppe, Skrap Miran, Ius Tama |
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. Neurology 2021 10 98 (1): e51-e61. Riant Florence, Roos Caroline, Roubertie Agathe, Barbance Cécile, Hadjadj Jessica, Auvin Stéphane, Baille Guillaume, Beltramone Marion, Boulanger Cécile, Cahn Alice, Cata Florina, Cheuret Emmanuel, Cuvellier Jean-Christophe, Defo Antoine, Demarquay Genevieve, Donnet Anne, Gaillard Nicolas, Massardier Evelyne, Guy Nathalie, Lamoureux Sylvie, Le Moigno Laurence, Lucas Christian, Ratiu Diana, Redon Sylvain, Rey Caroline, Thauvin Christel, Viallet François, Tournier-Lasserve Elisabeth, Ducros An |
Effects of CYP2C19 genetic polymorphisms on the pharmacokinetics of lacosamide in Korean patients with epilepsy. Epilepsia 2022 Aug . Ahn Seon-Jae, Oh Jaeseong, Kim Do-Yong, Son Hyoshin, Hwang Sungeun, Shin Hye-Rim, Kim Eun Young, Lee Han Sang, Lee Woo-Jin, Moon Jangsup, Lee Soon-Tae, Jung Keun-Hwa, Park Kyung-Il, Jung Ki-Young, Lee SeungHwan, Yu Kyung-Sang, Chu Kon, Lee Sang K |
An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome. Genes 2022 8 13 (8): . Du Xiaonan, Wang Ji, Li Shuang, Ma Yu, Wang Tianqi, Wu Bingbing, Zhou Yuanfeng, Yu Lifei, Wang |
Assessment of burden and segregation profiles of CNVs in patients with epilepsy. Annals of clinical and translational neurology 2022 Jun . Moreau Claudia, Tremblay Frédérique, Wolking Stefan, Girard Alexandre, Laprise Catherine, Hamdan Fadi F, Michaud Jacques L, Minassian Berge A, Cossette Patrick, Girard Simon |
Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation. Frontiers in molecular neuroscience 2022 5 15 861159. Wang Jing-Yang, Wang Jie, Lu Xin-Guo, Song Wang, Luo Sheng, Zou Dong-Fang, Hua Li-Dong, Peng Qian, Tian Yang, Gao Liang-Di, Liao Wei-Ping, He |
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. Annals of clinical and translational neurology 2022 4 9 (5): 747-755. Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui, Yoshimura Akiko, Kitao Ruriko, Morimoto Takehiko, Taniguchi Takaki, Takeuchi Mika, Takei Jun, Hiramatsu Yu, Sakiyama Yusuke, Hashiguchi Akihiro, Okamoto Yuji, Mitsui Jun, Ishiura Hiroyuki, Tsuji Shoji, Takashima Hiros |
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain : a journal of neurology 2022 4 145 (8): 2704-2720. Lai Dulcie, Gade Meethila, Yang Edward, Koh Hyun Yong, Lu Jinfeng, Walley Nicole M, Buckley Anne F, Sands Tristan T, Akman Cigdem I, Mikati Mohamad A, McKhann Guy M, Goldman James E, Canoll Peter, Alexander Allyson L, Park Kristen L, Von Allmen Gretchen K, Rodziyevska Olga, Bhattacharjee Meenakshi B, Lidov Hart G W, Vogel Hannes, Grant Gerald A, Porter Brenda E, Poduri Annapurna H, Crino Peter B, Heinzen Erin |
A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies.
Brain : a journal of neurology 2022 3 . Strippel Christine, Herrera-Rivero Marisol, Wendorff Mareike, Tietz Anja K, Degenhardt Frauke, Witten Anika, Schroeter Christina, Nelke Christopher, Golombeck Kristin S, Madlener Marie, Rüber Theodor, Ernst Leon, Racz Attila, Baumgartner Tobias, Widman Guido, Doppler Kathrin, Thaler Franziska, Siebenbrodt Kai, Dik Andre, Kerin Constanze, Räuber Saskia, Gallus Marco, Kovac Stjepana, Grauer Oliver M, Grimm Alexander, Prüss Harald, Wickel Jonathan, Geis Christian, Lewerenz Jan, Goebels Norbert, Ringelstein Marius, Menge Til, Tackenberg Björn, Kellinghaus Christoph, Bien Christian G, Kraft Andrea, Zettl Uwe, Ismail Fatme Seval, Ayzenberg Ilya, Urbanek Christian, Sühs Kurt-Wolfram, Tauber Simone C, Mues Sigrid, Körtvélyessy Peter, Markewitz Robert, Paliantonis Asterios, Elger Christian E, Surges Rainer, Sommer Claudia, Kümpfel Tania, Gross Catharina C, Lerche Holger, Wellmer Jörg, Quesada Carlos M, Then Bergh Florian, Wandinger Klaus-Peter, Becker Albert J, Kunz Wolfram S, Meyer Zu Hörste Gerd, Malter Michael P, Rosenow Felix, Wiendl Heinz, Kuhlenbäumer Gregor, Leypoldt Frank, Lieb Wolfgang, Franke Andre, Meuth Sven G, Stoll Monika, Melzer Nico, |
Reduced paraoxonase 1 activities may explain the comorbidities between temporal lobe epilepsy and depression, anxiety and psychosis. World journal of psychiatry 2022 3 12 (2): 308-322. Michelin Ana Paula, Maes Michael H J, Supasitthumrong Thitiporn, Limotai Chusak, Matsumoto Andressa Keiko, de Oliveira Semeão Laura, de Lima Pedrão João Victor, Moreira Estefânia Gastaldello, Kanchanatawan Buranee, Barbosa Décio Sabbati |
NCOR2 is a novel candidate gene for migraine-epilepsy phenotype. Cephalalgia : an international journal of headache 2022 2 42 (7): 631-644. Nuottamo Marjo Eveliina, Häppölä Paavo, Artto Ville, Hautakangas Heidi, Pirinen Matti, Hiekkalinna Tero, Ellonen Pekka, Lepistö Maija, Hämäläinen Eija, , Siren Auli, Lehesjoki Anna-Elina, Kallela Mikko, Palotie Aarno, Kaunisto Mari Anneli, Wessman Mai |
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci. Human genomics 2022 12 16 (1): 71. Al Anazi Abdulrahman H, Ammar Ahmed S, Al-Hajj Mahmoud, Cyrus Cyril, Aljaafari Danah, Khoda Iname, Abdelfatah Ahmed K, Alsulaiman Abdullah A, Alanazi Firas, Alanazi Rawan, Gandla Divya, Lad Hetal, Barayan Samar, Keating Brendan J, Al-Ali Amein |
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex. International journal of molecular sciences 2022 10 23 (19): . Togi Sumihito, Ura Hiroki, Hatanaka Hisayo, Niida |
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort. Frontiers in genetics 2022 1 12 782419. Yao Ruen, Zhou Yunqing, Tang Jie, Li Niu, Yu Tingting, He Yingzhong, Wang Cuijin, Wang Jiwen, Wang Ji |
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study. Epilepsia 2022 1 63 (3): 723-735. Koko Mahmoud, Motelow Joshua E, Stanley Kate E, Bobbili Dheeraj R, Dhindsa Ryan S, May Patrick, , , , , |
Exploring the bidirectional causal link between household income status and genetic susceptibility to neurological diseases: findings from a Mendelian randomization study. Frontiers in public health 2023 8 11 1202747. Weidong Nong, Gui Mo, Chun L |
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG 2023 6 . Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne-Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Déborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Pia |
Examining neurodevelopmental problems in 15q11.2 (BP1-BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample. Molecular genetics & genomic medicine 2023 5 e2191. Lina Jonsson, Joanna Martin, Paul Lichtenstein, Patrik K E Magnusson, Sebastian Lundström, Lars Westberg, Kristiina Tammimi |
Celiac disease and risk of neuropsychiatric disorders: A nationwide cohort study. Acta psychiatrica Scandinavica 2023 4 . Hansen Susanne, Osler Merete, Thysen Sanne Marie, Rumessen Jüri J, Linneberg Allan, Kårhus Line Lu |
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing. Epilepsia open 2023 3 . von Brauchitsch Sophie, Haslinger Denise, Lindlar Silvia, Thiele Holger, Bernsen Natalie, Zahnert Felix, Reif Philipp S, Balcik Yunus, Au Ping Yee Billie, Josephson Colin B, Altmüller Janine, Strzelczyk Adam, Knake Susanne, Rosenow Felix, Chiocchetti Andreas, Klein Karl Mart |
The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia 2023 12 . Authors are not available |
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases. American journal of human genetics 2023 12 . Rebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew Oetjens, Elizabeth Heise, Karen Chong, Richard Sidlow, Lauren O'Grady, Inderneel Sahai, Christa L Martin, David H Ledbetter, Scott M Myers, Kevin J Mitchell, Kyle Retter |
Impact of CYP2C9*2 and *3 polymorphisms on valproate-associated adverse drug reactions in individuals living with epilepsy: a case-control study. Personalized medicine 2023 10 . Kirubakaran Ramakrishnan, Ramasamy Kesavan, Shravan Venkatraman, Sunil K Narayan, Ramachandran Ramesh Kumar, Deepak Shewa |
A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals. EBioMedicine 2024 4 105086. Mariela V Jennings, José Jaime Martínez-Magaña, Natasia S Courchesne-Krak, Renata B Cupertino, Laura Vilar-Ribó, Sevim B Bianchi, Alexander S Hatoum, Elizabeth G Atkinson, Paola Giusti-Rodriguez, Janitza L Montalvo-Ortiz, Joel Gelernter, María Soler Artigas, , Sarah L Elson, Howard J Edenberg, Pierre Fontanillas, Abraham A Palmer, Sandra Sanchez-Roi |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
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- Page last updated:Apr 22, 2024
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