Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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
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
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