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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000 Research Limited
2022
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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. |
format | Online Article Text |
id | pubmed-9530620 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | F1000 Research Limited |
record_format | MEDLINE/PubMed |
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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