TY  - BOOK
AU  - Solazzi,Roberta
AU  -  Castellotti,Barbara
AU  -  Canafoglia,Laura
AU  -  Messina,Giuliana
AU  -  Magri,Stefania
AU  -  Freri,Elena
AU  -  Ragona,Francesca
AU  -  Franceschetti,Silvana
AU  -  Di Francesco,Jacopo C.
AU  -  Gellera,Cinzia
AU  -  Granata,Tiziana
TI  - Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy
PY  - 2021///.
							
N1  - 58
N2  - 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 harbouring a de novo, novel SCN8A deletion, whose clinical picture is consistent with an SCN8A-related “intermediate phenotype”. This patient's peculiar feature is the occurrence of paroxysmal tonic upgaze (PTU), a non-epileptic disorder consisting of sustained conjugate upward deviation of the eyes, with neck flexion, and downbeat saccades. PTU has been described in otherwise healthy children, as well as in a few genetic syndromes, but has never been observed in SCN8A-related phenotypes. This report, therefore, adds a new symptom to the spectrum of movement disorders associated with SCN8A-related developmental and epileptic encephalopathy. In this short communication, we provide video-EEG documentation of PTU and seizures, and discuss the challenging differential diagnosis between the two symptoms
UR  - https://shs.cairn.info/revue-epileptic-disorders-2021-4-page-643?lang=en&redirect-ssocas=7080
ER  -