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Early infantile epi...
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
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- Johnstone, Devon L. (författare)
- Children's Hospital of Eastern Ontario
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- Nguyen, Thi Tuyet Mai (författare)
- University Of Quebec In Montreal,Centre Hospitalier Universitaire Sainte-Justine
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- Zambonin, Jessica (författare)
- Children's Hospital of Eastern Ontario
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- Kernohan, Kristin D. (författare)
- Children's Hospital of Eastern Ontario
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- St-Denis, Anik (författare)
- University Of Quebec In Montreal,Centre Hospitalier Universitaire Sainte-Justine
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- Baratang, Nissan V. (författare)
- Centre Hospitalier Universitaire Sainte-Justine,University Of Quebec In Montreal
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- Hartley, Taila (författare)
- Children's Hospital of Eastern Ontario
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- Geraghty, Michael T. (författare)
- Children's Hospital of Eastern Ontario
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- Richer, Julie (författare)
- Children's Hospital of Eastern Ontario
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- Majewski, Jacek (författare)
- McGill University
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- Bareke, Eric (författare)
- McGill University
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- Guerin, Andrea (författare)
- Queen's University at Kingston
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- Pendziwiat, Manuela (författare)
- University of Kiel
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- Pena, Loren D.M. (författare)
- Cincinnati Children's Hospital Medical Center,University of Cincinnati
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- Braakman, Hilde M.H. (författare)
- Radboud University Medical Center,Radboud University Nijmegen,Maastricht University
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- Gripp, Karen W. (författare)
- Nemours Alfred I. duPont Hospital for Children
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- Edmondson, Andrew C. (författare)
- The Children's Hospital of Philadelphia
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- He, Miao (författare)
- The Children's Hospital of Philadelphia
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- Spillmann, Rebecca C. (författare)
- Duke University Medical Center
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- Eklund, Erik A. (författare)
- Lund University,Lunds universitet,Epilepsicentrum,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Epilepsy Center,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Skåne University Hospital
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- Bayat, Allan (författare)
- Dianalund Epilepsy Hospital,University of Southern Denmark
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- McMillan, Hugh J. (författare)
- Children's Hospital of Eastern Ontario
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- Boycott, Kym M. (författare)
- Children's Hospital of Eastern Ontario
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- Campeau, Philippe M. (författare)
- University Of Quebec In Montreal,Centre Hospitalier Universitaire Sainte-Justine
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(creator_code:org_t)
- 2020-08-03
- 2020
- Engelska 12 s.
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Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:6, s. 1321-1332
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://onlinelibrar...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified by clinical or research exome sequencing. Clinical data, including EEGs and MRIs, was comprehensively reviewed and flow cytometry and transfection experiments were performed to investigate PIGQ function. Pathogenic biallelic PIGQ variants were associated with increased mortality. Epileptic seizures, axial hypotonia, developmental delay and multiple congenital anomalies were consistently observed. Seizure onset occurred between 2.5 months and 7 months of age and varied from treatable seizures to recurrent episodes of status epilepticus. Gastrointestinal issues were common and severe, two affected individuals had midgut volvulus requiring surgical correction. Cardiac anomalies including arrythmias were observed. Flow cytometry using granulocytes and fibroblasts from affected individuals showed reduced expression of glycosylphosphatidylinositol (GPI)-anchored proteins. Transfection of wildtype PIGQ cDNA into patient fibroblasts rescued this phenotype. We expand the phenotypic spectrum of PIGQ-related disease and provide the first functional evidence in human cells of defective GPI-anchoring due to pathogenic variants in PIGQ.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Nyckelord
- epileptic encephalopathy
- exome sequencing
- GPI
- IGD
- PIGQ
- rare diseases
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Johnstone, Devon ...
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Nguyen, Thi Tuye ...
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Zambonin, Jessic ...
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Kernohan, Kristi ...
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St-Denis, Anik
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Baratang, Nissan ...
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visa fler...
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Hartley, Taila
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Geraghty, Michae ...
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Richer, Julie
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Majewski, Jacek
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Bareke, Eric
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Guerin, Andrea
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Pendziwiat, Manu ...
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Pena, Loren D.M.
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Braakman, Hilde ...
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Gripp, Karen W.
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Edmondson, Andre ...
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He, Miao
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Spillmann, Rebec ...
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Eklund, Erik A.
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Bayat, Allan
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McMillan, Hugh J ...
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Boycott, Kym M.
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Campeau, Philipp ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Neurovetenskaper
- Artiklar i publikationen
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Journal of Inher ...
- Av lärosätet
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Lunds universitet