Article
Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.
Epileptic disorders : international epilepsy journal with videotape - 1 Aug 2021
Solazzi Roberta, Castellotti Barbara, Canafoglia Laura, Messina Giuliana, Magri Stefania, Freri Elena, Ragona Francesca, Franceschetti Silvana, Di Francesco Jacopo C, Gellera Cinzia, Granata Tiziana
Abstract excerpt
Pathogenic variants in the SCN8A gene have been associated with a broad phenotypic spectrum, ranging from benign familial infantile seizures to severe, early-onset developmental and epileptic encephalopathy. This spectrum also includes an "intermediate phenotype" characterized by different degrees of cognitive disability, mild neurological impairment, and therapeutically manageable epilepsy. We report on a child...
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