Associated Papers
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Algahtani H et al.
Seizure, 2019
Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum.
Jiang Y et al.
Frontiers in Genetics, 2019
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.
Todd BP et al.
Journal of Neurogenetics, 2018
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.
Bassuk AG et al.
Journal of Neurogenetics, 2015
Select a paper to view details