Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved]
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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2022-02-01
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| Series: | HRB Open Research |
| Subjects: | |
| Online Access: | https://hrbopenresearch.org/articles/5-14/v1 |
| _version_ | 1811227091809599488 |
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| author | Niamh McSweeney Brian McNamara Geraldine B Boylan Michael Moore Carol M Stephens Andreea M Pavel Sean R Mathieson |
| author_facet | Niamh McSweeney Brian McNamara Geraldine B Boylan Michael Moore Carol M Stephens Andreea M Pavel Sean R Mathieson |
| author_sort | Niamh McSweeney |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-12T09:35:46Z |
| format | Article |
| id | doaj.art-8212cb06d1e849b08d3655d9f86485d2 |
| institution | Directory Open Access Journal |
| issn | 2515-4826 |
| language | English |
| last_indexed | 2024-04-12T09:35:46Z |
| publishDate | 2022-02-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | HRB Open Research |
| spelling | doaj.art-8212cb06d1e849b08d3655d9f86485d22022-12-22T03:38:14ZengF1000 Research LtdHRB Open Research2515-48262022-02-01514716Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved]Niamh McSweeney0https://orcid.org/0000-0001-8797-4534Brian McNamara1Geraldine B Boylan2Michael Moore3Carol M Stephens4https://orcid.org/0000-0002-0440-3398Andreea M Pavel5https://orcid.org/0000-0002-7233-3408Sean R Mathieson6Department of Paediatrics and Child Health, University College Cork, Cork, IrelandDepartment of Neurophysiology, Cork University Hospital, Cork, IrelandINFANT Research Centre, University College Cork, Cork, IrelandDepartment of Radiology, Cork University Hospital, Cork, IrelandINFANT Research Centre, University College Cork, Cork, IrelandINFANT Research Centre, University College Cork, Cork, IrelandINFANT Research Centre, University College Cork, Cork, IrelandPallister 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.https://hrbopenresearch.org/articles/5-14/v1Neonatal seizures electroencephalography (EEG) Pallister-Killian Syndrome epilepsyeng |
| spellingShingle | Niamh McSweeney Brian McNamara Geraldine B Boylan Michael Moore Carol M Stephens Andreea M Pavel Sean R Mathieson Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved] HRB Open Research Neonatal seizures electroencephalography (EEG) Pallister-Killian Syndrome epilepsy eng |
| title | Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved] |
| title_full | Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved] |
| title_fullStr | Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved] |
| title_full_unstemmed | Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved] |
| title_short | Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved] |
| title_sort | case report early neonatal eeg in two infants with pallister killian syndrome pks version 1 peer review 2 approved |
| topic | Neonatal seizures electroencephalography (EEG) Pallister-Killian Syndrome epilepsy eng |
| url | https://hrbopenresearch.org/articles/5-14/v1 |
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