Jolien Roovers
0000-0002-8599-1792
Flemish Government
5 papers found
Refreshing results…
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
The therapeutic potential of RNA regulation in neurological disorders
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
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