| 000 | 02403cam a2200349 4500500 | ||
|---|---|---|---|
| 005 | 20250121162612.0 | ||
| 041 | _afre | ||
| 042 | _adc | ||
| 100 | 1 | 0 |
_aSolazzi, Roberta _eauthor |
| 700 | 1 | 0 |
_a Castellotti, Barbara _eauthor |
| 700 | 1 | 0 |
_a Canafoglia, Laura _eauthor |
| 700 | 1 | 0 |
_a Messina, Giuliana _eauthor |
| 700 | 1 | 0 |
_a Magri, Stefania _eauthor |
| 700 | 1 | 0 |
_a Freri, Elena _eauthor |
| 700 | 1 | 0 |
_a Ragona, Francesca _eauthor |
| 700 | 1 | 0 |
_a Franceschetti, Silvana _eauthor |
| 700 | 1 | 0 |
_a Di Francesco, Jacopo C. _eauthor |
| 700 | 1 | 0 |
_a Gellera, Cinzia _eauthor |
| 700 | 1 | 0 |
_a Granata, Tiziana _eauthor |
| 245 | 0 | 0 | _aParoxysmal tonic upgaze in a child with SCN8A-related encephalopathy |
| 260 | _c2021. | ||
| 500 | _a58 | ||
| 520 | _aPathogenic 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. | ||
| 690 | _aDEE | ||
| 690 | _adevelopmental and epileptic encephalopathy | ||
| 690 | _a-related epilepsy | ||
| 690 | _aparoxysmal tonic upgaze | ||
| 690 | _aparoxysmal movement disorders | ||
| 690 | _aSCN8A | ||
| 786 | 0 | _nEpileptic Disorders | Vol 23 | 4 | 2021-04-01 | p. 643-647 | 1294-9361 | |
| 856 | 4 | 1 | _uhttps://shs.cairn.info/revue-epileptic-disorders-2021-4-page-643?lang=en&redirect-ssocas=7080 |
| 999 |
_c611656 _d611656 |
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