Early Infantile Epileptic Encephalopathy 4
What's New
Last Posted: Aug 25, 2023
- Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Liangliang Jiang, et al. Molecular genetics & genomic medicine 2023 0 e2269 - Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
Uddin Mohammed, et al. Neurology. Genetics 2017 0 (6) e199 - Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
Ostrander Betsy E P, et al. NPJ genomic medicine 2018 0 22 - Novel West syndrome candidate genes in a Chinese cohort.
Peng Jing, et al. CNS neuroscience & therapeutics 2018 0 (12) 1196-1206 - Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo Roberta, et al. American journal of hematology 2018 0 (5) 672-682 - A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.
Lin Kao-Min, et al. BMC pediatrics 2019 0 (1) 400 - [Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)].
Dadali E L, et al. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2020 0 (1) 55-61 - Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Wei Wen, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 0 (4) 2555-2563 - Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Yan, et al. BMC pediatrics 2021 0 (1) 477 - Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.
Guo Yufan, et al. Stem cell research 2021 0 102224 - Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
Al Mehdi Krami, et al. BioMed research international 2019 0 4872101 - Beyond the SNARE: Munc18-1 chaperones a-synuclein.
Deshpande Mugdha, et al. The Journal of cell biology 2016 9 - Early Infantile Epileptic Encephalopathy
From NCATS Genetic and Rare Diseases Information Center - Early Infantile Epileptic Encephalopathy 12
From NCATS Genetic and Rare Diseases Information Center - Early infantile epileptic encephalopathy 25
From NCATS Genetic and Rare Diseases Information Center - Early infantile epileptic encephalopathy 26
From NCATS Genetic and Rare Diseases Information Center - Early infantile epileptic encephalopathy 4
From NCATS Genetic and Rare Diseases Information Center
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