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

Abstract 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 product...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Wiley 2023-06-01
Rangatū:Epilepsia Open
Ngā marau:
cortical myoclonus
developmental and epileptic encephalopathies
progressive myoclonus epilepsy
SEMA6B gene mutations
Urunga tuihono:https://doi.org/10.1002/epi4.12697
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