Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1596 Records) |
Query Trace: Epilepsy[original query] |
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Coexistence of temporal lobe epilepsy and idiopathic generalized epilepsy. Epilepsy & behavior : E&B 2023 12 151 109602. Ali A Asadi-Pooya, Mahdi Malekpour, Ehsan Taherifard, Arashk Mallahzadeh, Mohsen Farjoud Kouhanja |
Systematic review and cumulative analysis of clinical properties of BRAF V600E mutations in PLNTY histological samples. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023 12 . Michael E Baumgartner, Shih-Shan Lang, Alexander M Tucker, Peter J Madsen, Phillip B Storm, Benjamin C Kenne |
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories. Frontiers in neurology 2023 12 14 1276238. Maximilian G W Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M Neuha |
CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report. Heliyon 2023 12 9 (12): e22987. Eleni Angelopoulou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Thomas Liehr, Yolanda Gyftodimou, Eunice G Stefanou, Carolina Sisma |
The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia 2023 12 . Authors are not available |
EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk. Seizure 2023 12 114 79-83. Kezban Aslan-Kara, Ebru Dündar-Yenilmez, Elçin Ate?, Mustafa Muhlis Alparslan, Taylan Peköz, Hacer Bozdemir, Abdullah Tu |
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 |
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders. Gene 2023 12 897 148071. Nan Pang, Kuokuo Li, Senwei Tan, Meilin Chen, Fang He, Chen Chen, Lifen Yang, Ciliu Zhang, Xiaolu Deng, Li Yang, Leilei Mao, Guoli Wang, Haolin Duan, Xiaole Wang, Wen Zhang, Hui Guo, Jing Peng, Fei Yin, Kun X |
Cerebral small vessel disease increases risk for epilepsy: a Mendelian randomization study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 11 . Yuzhu Wang, Hongzhou Zuo, Wei Li, Xiaohui Wu, Fu Zhou, Xuan Chen, Fei Liu, Zhiqin |
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2023 11 48 17-29. Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassutho |
Association of ABCB1 Polymorphisms with Efficacy and Adverse Drug Reactions of Valproic Acid in Children with Epilepsy. Pharmaceuticals (Basel, Switzerland) 2023 11 16 (11): . Jiahao Zhu, Jieluan Lu, Yaodong He, Xianhuan Shen, Hanbing Xia, Wenzhou Li, Jianping Zhang, Xiaomei F |
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 |
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. Clinical genetics 2024 1 . Yu-Jie Chen, Wen-Jie Wang, Dong-Fang Zou, Jun-Xia Luo, Pei-Yan Jin, Liang Jin, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Yong-Jun Chen, |
Factors Influencing Plasma Concentrations of Valproic Acid in Pediatric Patients with Epilepsy and the Clinical Significance of CYP2C9 Genotypes in Personalized Valproic Acid Therapy. Therapeutic drug monitoring 2024 1 . Bingsuo Ma, Kun Yang, Xinping Li, Ning Su, Ting Yu, Yan Zou, Xingmeng Xu, Fei Wang, Jingdong Cheng, Zijun Yan, Tong Chen, Liangming Zha |
Genetic prediction of antihyperglycemic drug targets and risk of epilepsy: a mendelian randomisation study. BMC pharmacology & toxicology 2024 1 25 (1): 1. Kaiping Zhou, Huan Yang, Zhihao Xie, Weiping Wang, Zhenzhen |
IDH1 mutation predicts seizure occurrence and prognosis in lower-grade glioma adults. Pathology, research and practice 2024 1 254 155165. Ting Tang, Yihe Wang, Yang Dai, Quanlei Liu, Xiaotong Fan, Ye Cheng, Jie Tang, Xinru Xiao, Yongzhi Shan, Penghu Wei, Guoguang Zh |
The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes. Epilepsy & behavior : E&B 2024 1 152 109607. Martina Paola Zanaboni, Ludovica Pasca, Stefania Bergamoni, Stefania Maria Bova, Massimiliano Celario, Elena Freri, Serena Grumi, Melissa Filippini, Valeria Leonardi, Serena Micheletti, Francesca Felicita Operto, Amanda Papa, Grazia Maria Giovanna Pastorino, Cinzia Peruzzi, Dario Pruna, Francesca Ragona, Federico Raviglione, Martina Totaro, Costanza Varesio, Valentina De Giorgis, |
The association of ABCB1 gene polymorphism with clinical response to carbamazepine monotherapy in patients with epilepsy. Molecular biology reports 2024 1 51 (1): 191. Haroon Ur Rashid, Shakir Ullah, Daniel F Carr, Muhammad Ijaz Khan Khattak, Muhammad Imran Asad, Mujeeb Ur Rehman, Muhammad Khalid Ti |
Genotype and phenotype correlation of PHACTR1-related neurological disorders. Journal of medical genetics 2024 1 . Zhao Xu, Lynette Sadleir, Himanshu Goel, Xianru Jiao, Yue Niu, Zongpu Zhou, Guillem de Valles-Ibáñez, Gemma Poke, Michael Hildebrand, Nico Lieffering, Jiong Qin, Zhixian Ya |
Epilepsy and psychiatric comorbidities: A bidirectional mendelian randomization study. Journal of affective disorders 2024 1 350 774-783. Hongyuan Chu, Bing Wang, Xinyu Zhao, Li |
Association Between Neurodegenerative Diseases and an Increased Risk of Epilepsy Based on Single Nucleotide Polymorphisms: A Mendelian Randomization Study. Molecular neurobiology 2024 1 . Jia Ouyang, Shijun Peng, Guangyong Wu, Ruen L |
Idiopathic Epilepsy Risk Allele Trends in Belgian Tervuren: A Longitudinal Genetic Analysis. Genes 2024 1 15 (1): . Nathan Kinsey, Janelle M Belanger, Paul J J Mandigers, Peter A Leegwater, Tiina Heinonen, Marjo K Hytönen, Hannes Lohi, Elaine A Ostrander, Anita M Oberbau |
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 |
Detection of pathogenic mutations in epilepsy-associated genes does not necessarily mean seizures or SUDEP. Seizure 2024 1 114 125-126. Josef Finster |
Long-term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6?months of life. Epilepsia open 2024 1 . Tianyu Song, Jie Deng, Chunhong Chen, Xiaohui Wang, Tongli Han, Xu Wang, Tie Fang, Xiaojuan Tian, Fang Fa |
Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study. Seizure 2024 1 115 81-86. S Krishna, Alfiya Fasaludeen, Manna Jose, Moinak Banerjee, Soumya Sundaram, Ashalatha Radhakrishnan, Ramshekhar N Men |
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 2024 1 16 (1): 13. Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNal |
Clinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy. American journal of clinical pathology 2024 1 . Zejun Duan, Ke Xu, Mingguo Xie, Xiaolin Tian, Xiongfei Wang, Jing Feng, Yuguang Guan, Jian Zhou, Guoming Luan, Xueling Qi, Dehong |
Identification of potential crucial genes and therapeutic targets for epilepsy. European journal of medical research 2024 1 29 (1): 43. Shitao Wang, Zhenrong Xie, Tian Jun, Xuelu Ma, Mengen Zhang, Feng Rao, Hui Xu, Jinghong Lu, Xiangqian Ding, Zongyou |
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report. Heliyon 2024 1 10 (1): e23257. Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi L |
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- Page last updated:Mar 25, 2024
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