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EnglishIntroduction: Pallister-Killian Syndrome (PKS) (OMIM #601803) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. Epilepsy is a frequent concern in PKS patients. Methods: we report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype. Results: Epilepsy onset was in the first 2 years of life in all patients and in 2 of them myoclonic seizures were the only seizure type. In all children photosensitivity was observed and myoclonic seizures were mainly related to low-frequency (1–6 Hz) intermittent photic stimulation. Levetiracetam was effective and well tolerated in the 2 treated patients. Conclusions: early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low-frequency photosensitivity is a peculiar bioelectrical marker in these children.
| Titolo: | Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome | |
| Autore/i: | Ricci E.; Bonfatti R.; Rocca A.; Sperti G.; Cagnazzo V.; Vignoli A.; Cocchi G.; Cordelli D. M. | |
| Autore/i Unibo: | ||
| Anno: | 2019 | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.ejpn.2019.05.012 | |
| Abstract: | Introduction: Pallister-Killian Syndrome (PKS) (OMIM #601803) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. Epilepsy is a frequent concern in PKS patients. Methods: we report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype. Results: Epilepsy onset was in the first 2 years of life in all patients and in 2 of them myoclonic seizures were the only seizure type. In all children photosensitivity was observed and myoclonic seizures were mainly related to low-frequency (1–6 Hz) intermittent photic stimulation. Levetiracetam was effective and well tolerated in the 2 treated patients. Conclusions: early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low-frequency photosensitivity is a peculiar bioelectrical marker in these children. | |
| Data stato definitivo: | 2020-01-03T18:29:42Z | |
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