Associated Papers
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A et al.
American Journal of Human Genetics, 2023
37421948 (PubMed )
Supplement: mmc1.pdf
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.
Giacomini T et al.
Brain & Development, 2022
Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant.
Evans DR et al.
Genes, 2022
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA et al.
American Journal of Human Genetics, 2019
Select a paper to view details