This study identifies #CSMD1 as a potentially novel causative gene associated with #DevelopmentalAndEpilepticEncephalopathy and generalized #Epilepsy employing a trio-based whole-exome sequencing approach. #medsky
#OpenAccess: www.sciencedirect.com/science/arti...
#UCB #fenfluramine #CDD #ultrarareepilepticdisorder #ultrararediseases #CDKL5deficiencydisorder #developmentalandepilepticencephalopathy #DEE #earlyonsetepilepsy #neurodevelopmentaldelays #developmentalandepilepticencephalopathies #CDKL5gene
pharmatimes.com/news/ucb-rep...
SYNGAP1-related disorders are typically due to de novo variants but are inherited in a small subset of individuals.
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #ACMGvariantclassification #developmentalandepilepticencephalopathy #eyelidmyoclonia #synapsedisorders #SYNGAP1
A study of children with SLC13A5-related #DevelopmentalAndEpilepticEncephalopathy #DEE documents overall global developmental impairment and poor quality of life #Epilepsy
onlinelibrary.wiley.com/doi/10.1111/...
CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies
This new study indicates that #CSMD1 is associated with #epilepsy and is a novel causative gene of #DevelopmentalAndEpilepticEncephalopathy (DEE) and generalized epilepsies. #medsky
#OpenAccess: www.sciencedirect.co...
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #POLR3B #Developmentalandepilepticencephalopathy #Genotypephenotypecorrelation
CSMD1 is a causative gene of developmental and epileptic encephalopathy and generalized epilepsies
A new study indicates that CSMD1 is associated with #epilepsy and is a novel causative gene of #DevelopmentalAndEpilepticEncephalopathy (DEE) and generalized epilepsies.
#OpenAccess: www.sciencedirect.co...
