Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 48 Records) |
| Query Trace: Disease and SCN1A[original query] |
|---|
| Clinical and genetic characteristics of patients with Doose syndrome. Epilepsia open 2020 9 5 (3): 442-450. Hinokuma Nodoka, Nakashima Mitsuko, Asai Hideyuki, Nakamura Kazuyuki, Akaboshi Shinjiro, Fukuoka Masataka, Togawa Masami, Oana Shingo, Ohno Koyo, Kasai Mariko, Ogawa Chikako, Yamamoto Kazuna, Okumiya Kiyohito, Chong Pin Fee, Kira Ryutaro, Uchino Shumpei, Fukuyama Tetsuhiro, Shinagawa Tomoe, Miyata Yohane, Abe Yuichi, Hojo Akira, Kobayashi Kozue, Maegaki Yoshihiro, Ishikawa Nobutsune, Ikeda Hiroko, Amamoto Masano, Mizuguchi Takeshi, Iwama Kazuhiro, Itai Toshiyuki, Miyatake Satoko, Saitsu Hirotomo, Matsumoto Naomichi, Kato Mitsuhi |
| Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
| Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy. Frontiers in pharmacology 2020 11 555. Calderon-Ospina Carlos Alberto, Galvez Jubby Marcela, López-Cabra Claudia, Morales Natalia, Restrepo Carlos Martín, Rodríguez Jesús, Aristizábal-Gutiérrez Fabio Ancízar, Velez-van-Meerbeke Alberto, Laissue Paul, Fonseca-Mendoza Dora Jane |
| Analysis of Genetic Variants in SCN1A, SCN2A, KCNK18, TRPA1 and STX1A as a Possible Marker of Migraine. Current genomics 2020 Apr 21 (3): 224-236. Kowalska Marta, Prendecki Micha?, Kapelusiak-Pielok Magdalena, Grzelak Teresa, ?agan-J?drzejczyk Urszula, Wiszniewska Ma?gorzata, Kozubski Wojciech, Dorszewska Jolan |
| Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing. Annals of clinical and laboratory science 2020 10 50 (5): 625-637. Lee Jiwon, Lee Chung, Park Woong-Yang, Lee Jeeh |
| Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. BMC genomics 2021 Aug 22 (1): 590. Lo Faro Valeria, Ten Brink Jacoline B, Snieder Harold, Jansonius Nomdo M, Bergen Arthur |
| Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. Neurogenetics 2021 5 22 (2): 105-115. Rampazzo Ana Carla Mondek, Dos Santos Rafael Rodrigues Pinheiro, Maluf Fernando Arfux, Simm Renata Faria, Marson Fernando Augusto Lima, Ortega Manoela Marques, de Aguiar Paulo Henrique Pir |
| [Genetics Analysis of patients with Dravet syndrome due to mosaicism variation of paternal SCN1A gene]. Zhonghua yi xue za zhi 2021 4 101 (16): 1182-1185. Huo M Z, Niu W B, Xu J W, Shi H, Liu Y D, Zhang Y |
| UNC13B variants associated with partial epilepsy with favourable outcome. Brain : a journal of neurology 2021 4 144 (10): 3050-3060. Wang Jie, Qiao Jing-Da, Liu Xiao-Rong, Liu De-Tian, Chen Yan-Hui, Wu Yi, Sun Yan, Yu Jing, Ren Rong-Na, Mei Zhen, Liu Yu-Xi, Shi Yi-Wu, Jiang Mi, Lin Si-Mei, He Na, Li Bin, Bian Wen-Jun, Li Bing-Mei, Yi Yong-Hong, Su Tao, Liu Han-Kui, Gu Wei-Yue, Liao Wei-Pi |
| SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis. Frontiers in neurology 2021 1 11 581539. Hao Jindou, Liu Haiying, Ma Jiying, Liu Guosheng, Dong Guoqing, Liu Peihui, Xiao F |
| Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). Bratislavske lekarske listy 2022 123 (7): 483-486. Ceska Katarina, Danhofer Pavlina, Horak Ondrej, Spanelova Klara, Kolar Senad, Oslejskova Hana, Aulicka Stefan |
| Brain molecular mechanisms in Rasmussen encephalitis. Epilepsia 2022 11 64 (1): 218-230. Leitner Dominique F, Lin Ziyan, Sawaged Zacharia, Kanshin Evgeny, Friedman Daniel, Devore Sasha, Ueberheide Beatrix, Chang Julia W, Mathern Gary W, Anink Jasper J, Aronica Eleonora, Wisniewski Thomas, Devinsky Orr |
| Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology 2022 Jan . Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Denn |
| Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (4): 839-850. Koh Hyun Yong, Haghighi Alireza, Keywan Christine, Alexandrescu Sanda, Plews-Ogan Erin, Haas Elisabeth A, Brownstein Catherine A, Vargas Sara O, Haynes Robin L, Berry Gerard T, Holm Ingrid A, Poduri Annapurna H, Goldstein Richard |
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Brain : a journal of neurology 2022 1 145 (2): 555-568. Skotte Line, Fadista João, Bybjerg-Grauholm Jonas, Appadurai Vivek, Hildebrand Michael S, Hansen Thomas F, Banasik Karina, Grove Jakob, Albiñana Clara, Geller Frank, Bjurström Carmen F, Vilhjálmsson Bjarni J, Coleman Matthew, Damiano John A, Burgess Rosemary, Scheffer Ingrid E, Pedersen Ole Birger Vesterager, Erikstrup Christian, Westergaard David, Nielsen Kaspar René, Sørensen Erik, Bruun Mie Topholm, Liu Xueping, Hjalgrim Henrik, Pers Tune H, Mortensen Preben Bo, Mors Ole, Nordentoft Merete, Dreier Julie W, Børglum Anders D, Christensen Jakob, Hougaard David M, Buil Alfonso, Hviid Anders, Melbye Mads, Ullum Henrik, Berkovic Samuel F, Werge Thomas, Feenstra Bjar |
| Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
| Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population. Annals of medicine 2022 12 54 (1): 1938-1951. Alghamdi Mansour A, Al-Eitan Laith N, Asiri Ashwag, Rababa'h Doaa M, Alqahtani Sultan A, Aldarami Mohammed S, Alsaeedi Manar A, Almuidh Raghad S, Alzahrani Abdulbari A, Sakah Ahmad H, El Nashar Eman Mohamad, Otaif Mansour Y, Abdel Ghaffar Nawal |
| Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
| 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 |
| The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia 2023 12 . Authors are not available |
| 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 |
| Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy. Genes 2024 9 15 (9): . Martha-Spyridoula Katsarou, Anna Siatouni, Danae Tsikrika, Elena Kokkiou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Stylianos Gatzonis, Nikolaos Drakoulis, Maria Papasav |
| Cerebral venous sinus thrombosis and SCN1A, a novel association? Molecular biology reports 2024 8 51 (1): 883. Pankaj Prasun, Kylie Vermeire, Abdulrazak Ala |
| Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 . Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol |
| Single-Base Gene Variants in MIR-146A and SCN1A Genes Related to the Epileptogenic Process in Drug-Responsive and Drug-Resistant Temporal Lobe Epilepsy-A Preliminary Study in a Brazilian Cohort Sample. International journal of molecular sciences 2024 6 25 (11): . Renata Parissi Buainain, André Rodrigues Sodré, Jéssica Silva Dos Santos, Karen Antonia Girotto Takazaki, Luciano de Souza Queiroz, Carlos Tadeu Parisi de Oliveira, Paulo Henrique Pires de Aguiar, Fernando Augusto Lima Marson, Manoela Marques Orte |
| 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 |
| Genetic exploration of Dravet syndrome: two case report. Journal of medical case reports 2024 4 18 (1): 215. Agung Triono, Elisabeth Siti Herini, Guna |
| De novo SCN1A missense variant in a patient with Parkinson's disease. Frontiers in genetics 2024 11 15 1496683. Majed Alluqmani, Abdulfatah M Alayoubi, Jamil A Hashmi, Sulman Bas |
| 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 |
| Exploring the association between familial hemiplegic migraine genes (CACNA1A, ATP1A2 and SCN1A) with migraine and epilepsy: A UK Biobank exome-wide association study. Cephalalgia : an international journal of headache 2025 1 45 (1): 3331024241306103. Christian Staehr, Mette Nyegaard, Flemming W Bach, Palle Duun Rohde, Vladimir V Matchk |
- Page last reviewed:Feb 1, 2024
- Content source: