De Novo and Inherited SETD1A Variants in Early-onset Epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Neuroscience Bulletin"
DOI: 10.1007/s12264-019-00400-w
Abstract: Early-onset epilepsy is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders in the brain, and the… read more here.
Keywords: mutations setd1a; early onset; novo inherited; inherited setd1a ... See more keywords
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
Sign Up to like & getrecommendations! Published in 2018 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007281
Abstract: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and… read more here.
Keywords: variants map1b; novo inherited; periventricular nodular; nodular heterotopia ... See more keywords
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.935905
Abstract: Purpose Nearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a large proportion, whereas their characteristics remain to be elucidated.… read more here.
Keywords: inherited mutations; inherited col1a1; novo mutations; col1a1 col1a2 ... See more keywords