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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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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
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author Stephens, Carol M
Pavel, Andreea M
Mathieson, Sean R
McSweeney, Niamh
McNamara, Brian
Moore, Michael
Boylan, Geraldine B
author_facet Stephens, Carol M
Pavel, Andreea M
Mathieson, Sean R
McSweeney, Niamh
McNamara, Brian
Moore, Michael
Boylan, Geraldine B
author_sort Stephens, Carol M
collection PubMed
description 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.
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spelling pubmed-95306202022-10-13 Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) Stephens, Carol M Pavel, Andreea M Mathieson, Sean R McSweeney, Niamh McNamara, Brian Moore, Michael Boylan, Geraldine B HRB Open Res Clinical Practice Article 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. F1000 Research Limited 2022-02-18 /pmc/articles/PMC9530620/ /pubmed/36249954 http://dx.doi.org/10.12688/hrbopenres.13493.1 Text en Copyright: © 2022 Stephens CM et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Practice Article
Stephens, Carol M
Pavel, Andreea M
Mathieson, Sean R
McSweeney, Niamh
McNamara, Brian
Moore, Michael
Boylan, Geraldine B
Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
title Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
title_full Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
title_fullStr Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
title_full_unstemmed Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
title_short Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
title_sort case report: early neonatal eeg in two infants with pallister killian syndrome (pks)
topic Clinical Practice Article
url 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
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