Associated Papers
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B et al.
Epilepsia Open, 2023
36719163 (PubMed )
Supplement: EPI4-8-645-s001.xlsx › Supplementary_table
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E et al.
Cells, 2023
A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review.
Chen Y et al.
Frontiers in Genetics, 2023
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado A et al.
Human Molecular Genetics, 2022
Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review.
Duan J et al.
Frontiers in Pediatrics, 2022
A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature.
Li Q et al.
Journal of Molecular Neuroscience : Mn, 2021
Select a paper to view details