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Article

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

Seizure - 1 Nov 2020

Canafoglia Laura, Franceschetti Silvana, Granata Tiziana, Messina Giuliana, Solazzi Roberta, Ragona Francesca, Freri Elena, Scaioli Vidmer, Nardocci Nardo, Gellera Cinzia, Panzica Ferruccio, DiFrancesco Jacopo C, Castellotti Barbara

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PMID: 33007625
DOI: 10.1016/j.seizure.2020.09.011

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