Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
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
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
Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.
Herzog R et al.
Annals of Clinical and Translational Neurology, 2021
Select a paper to view details