Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 80 Records) |
| Query Trace: Syndrome and SCN1A[original query] |
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| 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 |
| 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 |
| Evaluation of burden of SCN1A pathogenicity in North Indian children with Dravet syndrome. Seizure 2024 9 122 10-18. Sandeep Negi, Prateek Bhatia, Anupriya Kaur, Jhumki Das, Tanvi Bhatia, Ritu Aggarwal, Naveen Sankhyan, Pratibha Singhi, Jitendra Kumar Sa |
| Insights into clinical phenotypes and treatment responses in a Small cohort of Taiwanese patients with SCN1A variants: A Preliminary study. Pediatrics and neonatology 2024 8 . Yu Min Syu, Inn-Chi Lee, Jyh-Feng Lu, Pi-Lien Hung, Syuan-Yu Hong, Ming-Tao Yang, Jao-Shwann Lia |
| Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects. Epilepsy & behavior : E&B 2024 7 158 109930. Fulya Kurekci, Mehmet Akif Kilic, Sinan Akbas, R?dvan Avci, Ceyda Oney, Ayca Dilruba Aslanger, Hulya Maras Genc, Nur Aydinli, Edibe Pembegul Yild |
| 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 |
| [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 |
| Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies. Epilepsy & behavior : E&B 2024 4 155 109762. Maria Luiza Benevides, Helena T de Moraes, Diana M M Granados, Luciana C Bonadia, Letícia Sauma, Maria Augusta Montenegro, Marilisa M Guerreiro, Íscia Lopes-Cendes, Ana Carolina Co |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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