Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 12 (of 12 Records) |
| Query Trace: Early Infantile Epileptic Encephalopathy 4[original query] |
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| Beyond the SNARE: Munc18-1 chaperones a-synuclein. The Journal of cell biology 2016 Sep . Deshpande Mugdha, Rodal Avital |
| Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurology. Genetics 2017 12 3 (6): e199. Uddin Mohammed, Woodbury-Smith Marc, Chan Ada, Brunga Ledia, Lamoureux Sylvia, Pellecchia Giovanna, Yuen Ryan K C, Faheem Muhammad, Stavropoulos Dimitri J, Drake James, Hahn Cecil D, Hawkins Cynthia, Shlien Adam, Marshall Christian R, Turner Lesley A, Minassian Berge A, Scherer Stephen W, Boelman Cyr |
| Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. NPJ genomic medicine 2018 8 3 22. Ostrander Betsy E P, Butterfield Russell J, Pedersen Brent S, Farrell Andrew J, Layer Ryan M, Ward Alistair, Miller Chase, DiSera Tonya, Filloux Francis M, Candee Meghan S, Newcomb Tara, Bonkowsky Joshua L, Marth Gabor T, Quinlan Aaron |
| Novel West syndrome candidate genes in a Chinese cohort. CNS neuroscience & therapeutics 2018 4 24 (12): 1196-1206. Peng Jing, Wang Ying, He Fang, Chen Chen, Wu Li-Wen, Yang Li-Fen, Ma Yu-Ping, Zhang Wen, Shi Zi-Qing, Chen Chao, Xia Kun, Guo Hui, Yin Fei, Pang N |
| Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. American journal of hematology 2018 2 93 (5): 672-682. Russo Roberta, Andolfo Immacolata, Manna Francesco, Gambale Antonella, Marra Roberta, Rosato Barbara Eleni, Caforio Paola, Pinto Valeria, Pignataro Piero, Radhakrishnan Kottayam, Unal Sule, Tomaiuolo Giovanna, Forni Gian Luca, Iolascon Achil |
| A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. BMC pediatrics 2019 11 19 (1): 400. Lin Kao-Min, Su Geng, Wang Fengpeng, Zhang Xiaobin, Wang Yuanqing, Ren Jun, Wang Xin, Yao Yi, Zhou Yi |
| [Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2020 2 120 (1): 55-61. Dadali E L, Mishina I A, Borovikov A O, Sharkov A A, Kanivets I |
| Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. BioMed research international 2019 2019 4872101. Al Mehdi Krami, Fouad Benhnini, Zouhair Elkarhat, Boutaina Belkady, Yassine Naasse, Chaimaa Ait El Cadi, Najat Sifeddine, Hassan Rouba, Rachida Roky, Abdelhamid Barakat, Halima Nahi |
| Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation. Stem cell research 2021 2 52 102224. Guo Yufan, Wang Jianda, Wang ZhiLiang, Lou Yuting, Chen Wangyang, Sheng Min, Wang Ye, Zhang Bijun, Gao Liuyan, Feng Jianh |
| Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 11 43 (4): 2555-2563. Wei Wen, Zheng Xiu-Fen, Ruan Dan-Dan, Gan Yu-Mian, Zhang Yan-Ping, Chen Ying, Lin Xin-Fu, Tang Fa-Qiang, Luo Jie-Wei, Li Yun-F |
| Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder. BMC pediatrics 2021 10 21 (1): 477. Xu Yan, Dou Ya-Lan, Chen Xiang, Dong Xin-Ran, Wang Xin-Hua, Wu Bing-Bing, Cheng Guo-Qiang, Zhou Yuan-Fe |
| Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations. Molecular genetics & genomic medicine 2023 8 e2269. Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang De |
- Page last reviewed:Feb 1, 2024
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