Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Shiyan Qiu"'
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1658-1669 (2024)
Abstract Objective To summarize the clinical features and genetic mutation characteristics of Chinese children with KCNQ2‐related epilepsy. Methods A cohort of children with genetically caused epilepsy was evaluated at Linyi People's Hospital from
Externí odkaz:
https://doaj.org/article/60da808c4586498d8d1dd3216b6e647d
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)
Abstract Background Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytot
Externí odkaz:
https://doaj.org/article/6216519ce2164435a45f2c1c41b79230
Publikováno v:
Brain and Behavior, Vol 10, Iss 10, Pp n/a-n/a (2020)
Abstract Introduction G elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we pres
Externí odkaz:
https://doaj.org/article/bf128c8b1227479794ace45e32e1c1a9
Autor:
Li Yang, Cuiping You, Shiyan Qiu, Xiaofan Yang, Yufen Li, Feng Liu, Dongqing Zhang, Yue Niu, Liyun Xu, Na Xu, Xia Li, Fang Luo, Junli Yang, Baomin Li
Publikováno v:
Brain and Behavior, Vol 10, Iss 5, Pp n/a-n/a (2020)
Abstract Background Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2‐related mutations in Chines
Externí odkaz:
https://doaj.org/article/593044c0e87a40138ef7bba281804903
Autor:
Fang Luo, Dongqing Zhang, Na Xu, Yufen Li, Junli Yang, Liyun Xu, Xia Li, Li Yang, Cuiping You, Feng Liu, Yue Niu, Xiaofan Yang, Baomin Li, Shiyan Qiu
Publikováno v:
Brain and Behavior, Vol 10, Iss 5, Pp n/a-n/a (2020)
Brain and Behavior
Brain and Behavior
Background Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2‐related mutations in Chinese epileps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1da02c62f83ba8c86f615f43b38c1de
https://doaj.org/article/593044c0e87a40138ef7bba281804903
https://doaj.org/article/593044c0e87a40138ef7bba281804903
Publikováno v:
Brain and Behavior
Brain and Behavior, Vol 10, Iss 10, Pp n/a-n/a (2020)
Brain and Behavior, Vol 10, Iss 10, Pp n/a-n/a (2020)
Introduction G elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we present a nov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c9f32835260f0099afeec46009a2785
https://pubmed.ncbi.nlm.nih.gov/32776492
https://pubmed.ncbi.nlm.nih.gov/32776492
Autor:
Yue Niu, Xia Li, Na Xu, Li Yang, Feng Liu, Dongqing Zhang, Fang Luo, Baomin Li, Yufen Li, Junli Yang, Liyun Xu, Cuiping You, Shiyan Qiu, Xiaofan Yang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c9a283fdafd68db222d418e6e966a5d
https://doi.org/10.1002/brb3.1597/v2/response1
https://doi.org/10.1002/brb3.1597/v2/response1
Publikováno v:
Neuroscience letters. 658
Although Tourette syndrome (TS) is a chronic neuropsychiatric disorder whose pathogenesis remains unclear, genetic factors play an important role in the occurrence and development. A variety of studies have been shown that the candidate genes related
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7609a724c5f4972a0326af22a16cd329
https://pubmed.ncbi.nlm.nih.gov/28830823
https://pubmed.ncbi.nlm.nih.gov/28830823