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Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)

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 occurr...

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Detalles Bibliográficos
Autores principales: Stephens, Carol M, Pavel, Andreea M, Mathieson, Sean R, McSweeney, Niamh, McNamara, Brian, Moore, Michael, Boylan, Geraldine B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9530620/
https://www.ncbi.nlm.nih.gov/pubmed/36249954
http://dx.doi.org/10.12688/hrbopenres.13493.1
Descripción
Sumario: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.