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Bayat A, Kløvgaard M, Johannesen KM, et al. Deciphering the premature mortality in PIGA-CDG - An untold story. Epilepsy Res. 2020;170:106530doi: 10.1016/j.eplepsyres.2020.106530.
Bayat, A., Kløvgaard, M., Johannesen, K. M., Barakat, T. S., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, L., Tümer, Z., Rubboli, G., & Møller, R. S. (2021). Deciphering the premature mortality in PIGA-CDG - An untold story. Epilepsy research, 170106530. https://doi.org/10.1016/j.eplepsyres.2020.106530
Bayat, Allan, et al. "Deciphering the premature mortality in PIGA-CDG - An untold story." Epilepsy research vol. 170 (2021): 106530. doi: https://doi.org/10.1016/j.eplepsyres.2020.106530
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Deciphering the premature mortality in PIGA-CDG - An untold story. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 09. PMID: 33508693.
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Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 09.

Deciphering the premature mortality in PIGA-CDG - An untold story.

Epilepsy research

Allan Bayat, Marius Kløvgaard, Katrine M Johannesen, Tahsin Stefan Barakat, Anneke Kievit, Martino Montomoli, Elena Parrini, Nicola Pietrafusa, Jurgen Schelhaas, Marjon van Slegtenhorst, Kazushi Miya, Renzo Guerrini, Lisbeth Tranebjærg, Zeynep Tümer, Guido Rubboli, Rikke S Møller

Affiliations

  1. Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department for Regional Health Services, University of Southern Denmark, Odense, Denmark. Electronic address: [email protected].
  2. The Epilepsy Clinic, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  3. Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  4. Department of Clinical Genetics, Erasmus MC - University Medical Center, Rotterdam, the Netherlands.
  5. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
  6. Department of Neuroscience and Neurorehabilitation, Bambino Gesù Pediatric Hospital, Rome, Italy.
  7. Stichting Epilepsie Instellingen Nederland (SEIN), the Netherlands.
  8. Department of Educational Sciences (Human Development and Welfare Course), University of Toyama, Faculty of Human Development, Toyama, Japan.
  9. Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark.
  10. Department for Regional Health Services, University of Southern Denmark, Odense, Denmark; Department of Clinical Medicine, Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark.

PMID: 33508693 DOI: 10.1016/j.eplepsyres.2020.106530

Abstract

OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients have intellectual disability and global developmental delay. Previous reports have suggested that patients with PIGA-CDG have a high risk of premature mortality. This study aimed to evaluate the observed high mortality and the causes of death in PIGA-CDG patients.

METHODS: We reviewed the literature and collected additional unpublished patients through an international network.

RESULTS: In total, we reviewed the data of 88 patients of whom 30 patients born alive were deceased, and the overall mortality before the age of 20 years was 30 % (26/88). Age at death ranged from 15 days to 48 years of life. The median age at death was two years and more than half of the patients deceased in early childhood. The PIGA-specific mortality rate/1000 person-years was 44.9/1000 person-years (95 %, CI 31.4-64.3). There were no cases of definite or probable sudden unexpected death in epilepsy (SUDEP) and half of the patients died due to respiratory failure (15/30, 50 %) or possible SUDEP (3/30, 10 %). Three patients (10 %) died from severe cardiomyopathy, liver failure and gastrointestinal bleeding, respectively. The cause of death was unclassified in nine patients (30 %). Autopsies were rarely performed and the true cause of death remains unknown for the majority of patients.

SIGNIFICANCE: Our data indicate an increased risk of premature death in patients with PIGA-CDG when compared to most monogenic developmental and epileptic encephalopathies.

Copyright © 2020 Elsevier B.V. All rights reserved.

Keywords: Cardiomyopathy; Early cardiopulmonary death; Early infantile epileptic encephalopathy; Glycosylphosphatidylinositol biosynthesis defects; Mortality; PIGA; SUDEP

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