Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 39 Records) |
| Query Trace: Status Epilepticus[original query] |
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| Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. Epilepsy research 2015 Aug 117 1-6. Saitoh Makiko, Ishii Atsushi, Ihara Yukiko, Hoshino Ai, Terashima Hiroshi, Kubota Masaya, Kikuchi Kenjiro, Yamanaka Gaku, Amemiya Kaoru, Hirose Shinichi, Mizuguchi Masas |
| Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PloS one 2015 10 (5): e0127045. Viollet Louis, Glusman Gustavo, Murphy Kelley J, Newcomb Tara M, Reyna Sandra P, Sweney Matthew, Nelson Benjamin, Andermann Frederick, Andermann Eva, Acsadi Gyula, Barbano Richard L, Brown Candida, Brunkow Mary E, Chugani Harry T, Cheyette Sarah R, Collins Abigail, DeBrosse Suzanne D, Galas David, Friedman Jennifer, Hood Lee, Huff Chad, Jorde Lynn B, King Mary D, LaSalle Bernie, Leventer Richard J, Lewelt Aga J, Massart Mylynda B, Mérida Mario R, Ptá?ek Louis J, Roach Jared C, Rust Robert S, Renault Francis, Sanger Terry D, Sotero de Menezes Marcio A, Tennyson Rachel, Uldall Peter, Zhang Yue, Zupanc Mary, Xin Winnie, Silver Kenneth, Swoboda Kathryn |
| Decision-making in patients with temporal lobe epilepsy: Delay gratification ability is not impaired in patients with hippocampal sclerosis. Epilepsy & behavior : E&B 2016 May 60 158-164. Rzezak Patricia, Lima Ellen Marise, Pereira Fabricio, Gargaro Ana Carolina, Coimbra Erica, de Vincentiis Silvia, Velasco Tonicarlo Rodrigues, Leite João Pereira, Busatto Geraldo F, Valente Kette |
| Toll-like Receptor-4 Polymorphisms and Serum Matrix Metalloproteinase-9 in Newly Diagnosed Patients With Calcified Neurocysticercosis and Seizures. Medicine 2016 Apr 95 (17): e3288. Lachuriya Gaurav, Garg Ravindra Kumar, Jain Amita, Malhotra Hardeep Singh, Singh Arvind Kumar, Jain Bhawna, Kumar Neeraj, Verma Rajesh, Sharma Praveen Kum |
| Cognitive function after status epilepticus versus after multiple generalized tonic-clonic seizures. Epilepsy research 2017 12 140 39-45. Power Kjersti N, Gramstad Arne, Gilhus Nils Erik, Hufthammer Karl Ove, Engelsen Bernt |
| SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. Journal of clinical neurology (Seoul, Korea) 2017 1 13 (1): 62-70. Do Thi Thu Hang, Vu Diem My, Huynh Thi Thuy Kieu, Le Thi Khanh Van, Sohn Eun Hwa, Le Thieu Mai Thao, Ha Huu Hao, Bui Chi B |
| Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy. Sleep medicine 2018 Apr 48 8-15. Licchetta Laura, Poda Roberto, Vignatelli Luca, Pippucci Tommaso, Zenesini Corrado, Menghi Veronica, Mostacci Barbara, Baldassari Sara, Provini Federica, Tinuper Paolo, Bisulli Frances |
| CYP2C9 polymorphisms in epilepsy: influence on phenytoin treatment. Pharmacogenomics and personalized medicine 2018 4 11 51-58. Silvado Carlos Eduardo, Terra Vera Cristina, Twardowschy Carlos Alexand |
| Association study of functional polymorphisms of dopaminergic pathway in epilepsy-related factors of temporal lobe epilepsy in Brazilian population. European journal of neurology 2018 Mar . Alcantara J A, Vincentis S, Kerr D S, Dos Santos B, Alessi R, van der Linden H, Chaim T, Serpa M H, Busatto G F, Gattaz W F, Demarque R, Valente K |
| Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia 2018 1 59 (2): 389-402. Johannesen Katrine M, Gardella Elena, Linnankivi Tarja, Courage Carolina, de Saint Martin Anne, Lehesjoki Anna-Elina, Mignot Cyril, Afenjar Alexandra, Lesca Gaetan, Abi-Warde Marie-Thérèse, Chelly Jamel, Piton Amélie, Merritt J Lawrence, Rodan Lance H, Tan Wen-Hann, Bird Lynne M, Nespeca Mark, Gleeson Joseph G, Yoo Yongjin, Choi Murim, Chae Jong-Hee, Czapansky-Beilman Desiree, Reichert Sara Chadwick, Pendziwiat Manuela, Verhoeven Judith S, Schelhaas Helenius J, Devinsky Orrin, Christensen Jakob, Specchio Nicola, Trivisano Marina, Weber Yvonne G, Nava Caroline, Keren Boris, Doummar Diane, Schaefer Elise, Hopkins Sarah, Dubbs Holly, Shaw Jessica E, Pisani Laura, Myers Candace T, Tang Sha, Tang Shan, Pal Deb K, Millichap John J, Carvill Gemma L, Helbig Kathrine L, Mecarelli Oriano, Striano Pasquale, Helbig Ingo, Rubboli Guido, Mefford Heather C, Møller Rikke |
| Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. American journal of medical genetics. Part A 2019 11 182 (3): 504-507. Grocott Olivia, Phanor Sabrina K, Fung France, Thibert Ronald L, Berkmen Melanie |
| Expanding and validating the biomarkers for mitochondrial diseases. Journal of molecular medicine (Berlin, Germany) 2020 8 98 (10): 1467-1478. Maresca Alessandra, Del Dotto Valentina, Romagnoli Martina, La Morgia Chiara, Di Vito Lidia, Capristo Mariantonietta, Valentino Maria Lucia, Carelli Valerio, |
| Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome. Annals of clinical and translational neurology 2020 7 7 (8): 1429-1435. Helbig Ingo, Barcia Giulia, Pendziwiat Manuela, Ganesan Shiva, Mueller Stefanie H, Helbig Katherine L, Vaidiswaran Priya, Xian Julie, Galer Peter D, Afawi Zaid, Specchio Nicola, Kluger Gerhard, Kuhlenbäumer Gregor, Appenzeller Silke, Wittig Michael, Kramer Uri, van Baalen Andreas, Nabbout Rima, |
| A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). Genes 2020 3 11 (3): . Leonardi Emanuela, Bellini Mariagrazia, Aspromonte Maria C, Polli Roberta, Mercante Anna, Ciaccio Claudia, Granocchio Elisa, Bettella Elisa, Donati Ilaria, Cainelli Elisa, Boni Stefania, Sartori Stefano, Pantaleoni Chiara, Boniver Clementina, Murgia Alessand |
| High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020 12 84 40-46. Wang Tianqi, Wang Ji, Ma Yu, Zhou Hao, Ding Ding, Li Chunpei, Du Xiaonan, Jiang Yong-Hui, Wang Yi, Long Shasha, Li Shuang, Lu Guoping, Chen Weiming, Zhou Yuanfeng, Zhou Shuizhen, Wang |
| CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia 2021 May . Ernst Michelle E, Baugh Evan H, Thomas Amanda, Bier Louise, Lippa Natalie, Stong Nicholas, Mulhern Maureen S, Kushary Sulagna, Akman Cigdem I, Heinzen Erin L, Yeh Raymond, Bi Weimin, Hanchard Neil A, Burrage Lindsay C, Leduc Magalie S, Chong Josephine S C, Bend Renee, Lyons Michael J, Lee Jennifer A, Suwannarat Pim, Brilstra Eva, Simon Marleen, Koopmans Marije, van Binsbergen Ellen, Groepper Daniel, Fleischer Julie, Nava Caroline, Keren Boris, Mignot Cyril, Mathieu Sophie, Mancini Grazia M S, Madan-Khetarpal Suneeta, Infante Elena M, Bluvstein Judith, Seeley Andrea, Bachman Kristine, Klee Eric W, Schultz-Rogers Laura E, Hasadsri Linda, Barnett Sarah, Ellingson Marissa S, Ferber Matthew J, Narayanan Vinodh, Ramsey Keri, Rauch Anita, Joset Pascal, Steindl Katharina, Sheehan Theodore, Poduri Annapurna, Vasquez Alejandra, Ruivenkamp Claudia, White Susan M, Pais Lynn, Monaghan Kristin G, Goldstein David B, Sands Tristan T, Aggarwal Vim |
| Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk. Seizure 2021 12 94 129-135. Perulli Marco, Battista Andrea, Sivo Serena, Turrini Ida, Musto Elisa, Quintiliani Michela, Gambardella Maria Luigia, Contaldo Ilaria, Veredice Chiara, Mercuri Eugenio Maria, Lanza Gaetano Antonio, Dravet Charlotte, Delogu Angelica Bibiana, Battaglia Domenica Immacola |
| Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene. Neurogenetics 2021 Nov . Rinaldi Berardo, Ge Yu-Han, Freri Elena, Tucci Arianna, Granata Tiziana, Estienne Margherita, Sun Jia-Hui, Gérard Bénédicte, Bayat Allan, Efthymiou Stephanie, Gervasini Cristina, Shi Yun Stone, Houlden Henry, Marchisio Paola, Milani Donatel |
| Non-lesional late-onset epilepsy in the elderly Japanese patients: Presenting characteristics and seizure outcomes with regard to comorbid dementia. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2022 7 103 100-106. Nagino Naoto, Kubota Yuichi, Nakamoto Hidetoshi, Miyao Satoru, Kodama Tomohiro, Ito Susumu, Oguni Hirokazu, Chernov Mikha |
| Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2022 Jun . Bayat Allan, Fenger Christina D, Techlo Tanya R, Højte Anne F, Nørgaard Ida, Hansen Thomas F, Rubboli Guido, Møller Rikke S, Group Danish Cytogenetic Central Registry Stu |
| Association of IL-1B rs16944 Polymorphism With Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Is Opposite to That of Febrile Seizures. Frontiers in neurology 2022 13 891721. Shibata Akiko, Kasai Mariko, Hoshino Ai, Mizuguchi Masas |
| Elevations in Norclobazam Concentrations and Altered Mental Status in CYP2C19 Poor Metabolizer Phenotype: A Case Report. The Neurohospitalist 2023 9 13 (4): 434-437. Kristy M Phillips, Josanna M Rodriguez-Lopez, Andrew J We |
| Brain structural changes in alternating hemiplegia of childhood using single-case voxel-based morphometry analysis. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2023 8 . Elly Arizono, Noriko Sato, Yoko Shigemoto, Yukio Kimura, Emiko Chiba, Hiroyuki Maki, Hiroshi Matsuda, Eri Takeshita, Yuko Shimizu-Motohashi, Masayuki Sasaki, Kazuhiro Sai |
| The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. Human genome variation 2023 6 10 (1): 20. Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumo |
| Mortality after a first-ever unprovoked seizure. Epilepsia 2023 3 . Pang Elaine W, Lawn Nicholas D, Lee Judy, Dunne John |
| Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population. Journal of human genetics 2024 6 . Rui Dong, Ruifeng Jin, Hongwei Zhang, Haiyan Zhang, Min Xue, Yue Li, Kaihui Zhang, Yuqiang Lv, Xiaoying Li, Yi Liu, Zhongtao G |
| [Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 426-431. Bingwei Peng, Haixia Zhu, Yang Tian, Xiaojing Li, Xiuying Wang, Yuanyuan Gao, Yani Zhang, Huiling Shen, Wenxiong Ch |
| Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review. Epilepsy research 2024 4 202 107363. Chuchu Fang, Lin Yang, Feifan Xiao, Kai Yan, Wenhao Zh |
| Autism, Electrical Status Epilepticus in Sleep, and a Likely Pathogenic SEMA6B Variant. Pediatrics 2024 11 . Ahmed Ibrahim, David Jacks |
| Polygenic Landscape of Cryptogenic New-Onset Refractory Status Epilepticus: A Comprehensive Whole-Genome Sequencing Study. Annals of neurology 2024 10 . Yoonhyuk Jang, Sung Eun Hong, Soo Hyun Ahn, Su Yee Mon, Ji Hye You, Kon Chu, Sang Kun Lee, Murim Choi, Soon-Tae L |
- Page last reviewed:Feb 1, 2024
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