Zobrazeno 1 - 10
of 796
pro vyhledávání: '"FEBRILE SEIZURES PLUS"'
Autor:
Xinxiao Li, Shengnan Guo, Yangyang Sun, Jiangwei Ding, Chao Chen, Yuehui Wu, Peidong Li, Tao Sun, Xinjun Wang
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-21 (2024)
Abstract Genetic epilepsy with febrile seizures plus (GEFS+) is a genetic epilepsy syndrome characterized by a marked hereditary tendency inherited as an autosomal dominant trait. Patients with GEFS+ may develop typical febrile seizures (FS), while g
Externí odkaz:
https://doaj.org/article/ada87dcb2f184d279f487a3ca01b4607
Autor:
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Externí odkaz:
https://doaj.org/article/a2847d81b9cc4118b9152c7100cc4f31
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Genetic epilepsy with febrile seizures plus (GEFSP) is a familial epileptic syndrome that is genetically heterogeneous and inherited in an autosomal dominant form in most cases. To date, at least seven genes have been reported to associate with GEFSP
Externí odkaz:
https://doaj.org/article/58f9c611df824b119ab927e848fe690a
Autor:
Olivier Fortin, Christian Vincelette, Afsheen Q. Khan, Saoussen Berrahmoune, Christelle Dassi, Mitra Karimi, Ingrid E. Scheffer, Jun Lu, Kellie Davis, Kenneth A. Myers
Publikováno v:
Epilepsia Open, Vol 6, Iss 2, Pp 425-430 (2021)
Abstract We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%‐90% have NSD1 pathogenic variants. Patients were
Externí odkaz:
https://doaj.org/article/3e0f33617ffc4f4e9b85d226ad046003
Autor:
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
PurposeTo identify novel genetic causes of febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+).MethodsWe performed whole-exome sequencing in a cohort of 32 families, in which at least two individuals were affected by FS or EFS+. The
Externí odkaz:
https://doaj.org/article/11a1b44fa0a344beb0a81664897b1c58
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Although SCN1A variants result in a wide range of phenotypes, genotype-phenotype associations are not well established. We aimed to explore the phenotypic characteristics of SCN1A associated seizure diseases and establish genotype-phenotype correlati
Externí odkaz:
https://doaj.org/article/74cb536fbd694f04a98b276c72c66063
Akademický článek
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Autor:
Jian Ding, Qin‐Fei Miao, Jing‐Wen Zhang, Yu‐Xiong Guo, Yu‐Xin Zhang, Qiong‐Xiang Zhai, Zhi‐Hong Chen
Publikováno v:
Brain and Behavior, Vol 10, Iss 12, Pp n/a-n/a (2020)
Abstract Purpose The aim of this was to discover disease‐causing gene mutations linked to genetic epilepsy with febrile seizures plus (GEFS+) in a family in the Southern Chinese Han population. Of a three‐generation pedigree of 18 members in this
Externí odkaz:
https://doaj.org/article/32dc8ef5151e48438e399dd6a0d9f7af
Akademický článek
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Autor:
A. A. Sharkov
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 12, Iss 1S (2020)
Febrile seizures (FS) occur in about 2–3% of children aged 3 months to 5 years. Atypical febrile seizures are those with a focal component. Each subsequent febrile attack increases the risk of transformation into epilepsy. After the third febrile s
Externí odkaz:
https://doaj.org/article/9d356ce0c46e4ba0b0f319b3b36ea294