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Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved]

Authors :
Niamh McSweeney
Brian McNamara
Geraldine B Boylan
Michael Moore
Carol M Stephens
Andreea M Pavel
Sean R Mathieson
Source :
HRB Open Research, Vol 5 (2022)
Publication Year :
2022
Publisher :
F1000 Research Ltd, 2022.

Abstract

Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy is a known complication, with onset usually occurring in early childhood and characterised most commonly by spasms and myoclonic seizures. To the best of our knowledge, there have been no cases describing the early neonatal EEG in PKS and electrographic seizures, to date. Here, we report two cases of PKS presenting in the neonatal period with distinctive EEG features and seizures.

Details

Language :
English
ISSN :
25154826
Volume :
5
Database :
Directory of Open Access Journals
Journal :
HRB Open Research
Publication Type :
Academic Journal
Accession number :
edsdoj.8212cb06d1e849b08d3655d9f86485d2
Document Type :
article
Full Text :
https://doi.org/10.12688/hrbopenres.13493.1