Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 71 Records) |
| Query Trace: Syndrome and SCN1A[original query] |
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| The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
| A novel variant in SCN1A gene associated with Dravet syndrome. Seizure 2019 5 69 213-214. Pathirana Baps, Hettiarachchi D, Neththikumara N F, Ratnayake P D, Dissanayake V |
| Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. Frontiers in neurology 2019 4 10 289. Gonsales Marina C, Montenegro Maria Augusta, Preto Paula, Guerreiro Marilisa M, Coan Ana Carolina, Quast Monica Paiva, Carvalho Benilton S, Lopes-Cendes Isc |
| Time of Day and a Ketogenic Diet Influence Susceptibility to SUDEP in Scn1a Mice. Frontiers in neurology 2019 4 10 278. Teran Frida A, Kim YuJaung, Crotts Megan S, Bravo Eduardo, Emaus Katlynn J, Richerson George |
| SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. Epileptic disorders : international epilepsy journal with videotape 2019 4 21 (2): 185-191. Bisulli Francesca, Licchetta Laura, Baldassari Sara, Muccioli Lorenzo, Marconi Caterina, Cantalupo Gaetano, Myers Candace, Menghi Veronica, Minardi Raffaella, Caporali Leonardo, Marini Carla, Guerrini Renzo, Mefford Heather C, Tinuper Paolo, Pippucci Tomma |
| Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. Seizure 2019 11 74 8-13. Till Ágnes, Zima Judith, Fekete Anett, Bene Judit, Czakó Márta, Szabó András, Melegh Béla, Hadzsiev Kin |
| SCN1A Variants in vaccine-related febrile seizures: A prospective study. Annals of neurology 2019 Nov . Damiano John A, Deng Lucy, Li Wenhui, Burgess Rosemary, Schneider Amy L, Crawford Nigel W, Buttery Jim, Gold Michael, Richmond Peter, Macartney Kristine K, Hildebrand Michael S, Scheffer Ingrid E, Wood Nicholas, Berkovic Samuel |
| Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study. Epilepsy research 2019 10 168 106211. Oesch Gabriela, Bozarth Xiuhua Lia |
| 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 |
| Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. Journal of the neurological sciences 2020 Apr 414 116808. Shibata Akiko, Kasai Mariko, Terashima Hiroshi, Hoshino Ai, Miyagawa Taku, Kikuchi Kenjiro, Ishii Atsushi, Matsumoto Hiroshi, Kubota Masaya, Hirose Shinichi, Oka Akira, Mizuguchi Masas |
| 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 |
| Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats. Neurochemistry international 2020 10 141 104859. Ohmori Iori, Kobayashi Kiyoka, Ouchida Mamo |
| Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. Brain : a journal of neurology 2021 6 144 (12): 3623-3634. Zou Dongfang, Wang Lin, Liao Jianxiang, Xiao Hongdou, Duan Jing, Zhang Tongda, Li Jianbiao, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Zhan Nianji, Yang Ying, Ye Jingyu, Chen Fang, Zhu Shida, Wen Feiqiu, Guo Ji |
| 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 |
| 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 |
| Long-term Efficacy of Perampanel in a Child with Dravet Syndrome. Child neurology open 2021 10 8 2329048X211050711. Turón-Viñas Eulàlia, Díaz-Gómez Asunción, Coca Elisabet, Dougherty Lucía, Ruiz Carlos, Boronat Susa |
| Epilepsy with auditory features: Contribution of known genes in 112 patients. Seizure 2021 1 85 115-118. Bisulli F, Rinaldi C, Pippucci T, Minardi R, Baldassari S, Zenesini C, Mostacci B, Fanella M, Avoni P, Menghi V, Caporali L, Muccioli L, Tinuper P, Licchetta |
| Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology. Frontiers in neurology 2022 9 13 951850. Xie Han, Ma Jiayi, Ji Taoyun, Liu Qingzhu, Cai Lixin, Wu |
| 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 |
| ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities. Frontiers in molecular neuroscience 2022 7 15 864074. Zhou Peng, Meng Heng, Liang Xiaoyu, Lei Xiaoyun, Zhang Jingwen, Bian Wenjun, He Na, Lin Zhijian, Song Xingwang, Zhu Weiwen, Hu Bin, Li Bingmei, Yan Limin, Tang Bin, Su Tao, Liu Hankui, Mao Yong, Zhai Qiongxiang, Yi Yongho |
| Use of perampanel in children with refractory epilepsy of genetic aetiology. Epileptic disorders : international epilepsy journal with videotape 2022 6 24 (4): 687-695. Qu Rui, Dai Yuanyuan, Qu Xiangju, Li Yan, Shao Xuejun, Zhou Rui, Zhu Yali, Chen Xuq |
| SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility. Acta neuropathologica 2022 5 144 (1): 107-127. Silvennoinen Katri, Gawel Kinga, Tsortouktzidis Despina, Pitsch Julika, Alhusaini Saud, van Loo Karen M J, Picardo Richard, Michalak Zuzanna, Pagni Susanna, Martins Custodio Helena, Mills James, Whelan Christopher D, de Zubicaray Greig I, McMahon Katie L, van der Ent Wietske, Kirstein-Smardzewska Karolina J, Tiraboschi Ettore, Mudge Jonathan M, Frankish Adam, Thom Maria, Wright Margaret J, Thompson Paul M, Schoch Susanne, Becker Albert J, Esguerra Camila V, Sisodiya Sanjay |
| Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients. Medicina 2022 12 82 (6): 856-865. Juanes Matías, Loos Mariana, Reyes Gabriela, Veneruzzo Gabriel, García Francisco Martín, Aschettino Giovanna, Calligaris Silvana, Martín María Eugenia, Foncuberta María Eugenia, Alonso Cristina N, Caraballo Roberto |
| Behavioral phenotyping of young Scn1a haploinsufficient mice. Epilepsy & behavior : E&B 2022 10 136 108903. Reiber Maria, Miljanovic Nina, Schönhoff Katharina, Palme Rupert, Potschka Heidr |
| 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 |
| SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience. Indian pediatrics 2023 5 . Goske Maruthi, Pavithra Dhayalan, Priyanka Kumaran, Jagatheesh Soundraoandiyan, Prakash Gambh |
| Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. Brain : a journal of neurology 2023 4 . Martins Custodio Helena, Clayton Lisa M, Bellampalli Ravishankara, Pagni Susanna, Silvennoinen Katri, Caswell Richard, , Brunklaus Andreas, Guerrini Renzo, Koeleman Bobby P C, Lemke Johannes R, Møller Rikke S, Scheffer Ingrid E, Weckhuysen Sarah, Zara Federico, Zuberi Sameer, Kuchenbaecker Karoline, Balestrini Simona, Mills James D, Sisodiya Sanjay |
| Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 22, 2023
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