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.
Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome / E. Ricci, R. Bonfatti, A. Rocca, G. Sperti, V. Cagnazzo, A. Vignoli, G. Cocchi, D.M. Cordelli. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1090-3798. - 23:4(2019 Jul), pp. 653-656.
|Titolo:||Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome|
COCCHI, MARIO GIUSEPPE (Penultimo)
|Parole Chiave:||Low frequency photic stimulation; Myoclonic epilepsy; Pallister-Killian Syndrome; Photosensitivity|
|Settore Scientifico Disciplinare:||Settore MED/39 - Neuropsichiatria Infantile|
Settore MED/03 - Genetica Medica
|Data di pubblicazione:||lug-2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.ejpn.2019.05.012|
|Appare nelle tipologie:||01 - Articolo su periodico|