SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus

Publication date: Available online 23 September 2020Source: SeizureAuthor(s): Laura Canafoglia, Silvana Franceschetti, Tiziana Granata, Giuliana Messina, Roberta Solazzi, Francesca Ragona, Elena Freri, Vidmer Scaioli, Nardo Nardocci, Cinzia Gellera, Ferruccio Panzica, Jacopo C. DiFrancesco, Barbara Castellotti
Source: Seizure - Category: Neurology Source Type: research
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