Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with truncating mutations causing the production of ab...

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Detalles Bibliográficos
Autores principales: Castellotti, Barbara, Canafoglia, Laura, Freri, Elena, Tappatà, Maria, Messina, Giuliana, Magri, Stefania, DiFrancesco, Jacopo C., Fanella, Martina, Di Bonaventura, Carlo, Morano, Alessandra, Granata, Tiziana, Gellera, Cinzia, Franceschetti, Silvana, Michelucci, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235579/
https://www.ncbi.nlm.nih.gov/pubmed/36719163
http://dx.doi.org/10.1002/epi4.12697

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235579/
https://www.ncbi.nlm.nih.gov/pubmed/36719163
http://dx.doi.org/10.1002/epi4.12697

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