Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.
Low frequency photic stimulation
Myoclonic epilepsy
Pallister-Killian Syndrome
Photosensitivity
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
ISSN: 1532-2130
Titre abrégé: Eur J Paediatr Neurol
Pays: England
ID NLM: 9715169
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
received:
02
04
2019
revised:
15
05
2019
accepted:
20
05
2019
pubmed:
11
6
2019
medline:
19
11
2019
entrez:
11
6
2019
Statut:
ppublish
Résumé
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. we report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype. 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. early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low-frequency photosensitivity is a peculiar bioelectrical marker in these children.
Identifiants
pubmed: 31178275
pii: S1090-3798(19)30132-1
doi: 10.1016/j.ejpn.2019.05.012
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
653-656Informations de copyright
Copyright © 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.