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Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy
Progressive myoclonic epilepsy (PME) is a rare neurodegenerative disease, characterized by myoclonic seizures and tonic clonic seizures, with genetical and phenotypical heterogeneity. The semaphorin 6B (SEMA6B) gene has been recently reported a causal gene of PME. Independent studies are warranted t...
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| Udgivet i: | Front Cell Dev Biol |
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| Main Authors: | , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Frontiers Media S.A.
2021
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8129541/ https://ncbi.nlm.nih.gov/pubmed/34017830 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.633819 |
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