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SLC35A2-related con...
SLC35A2-related congenital disorder of glycosylation : Defining the phenotype
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- Yates, T. Michael (författare)
- Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England
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- Suri, Mohnish (författare)
- Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, City Hosp Campus, Nottingham, England
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- Desurkar, Archana (författare)
- Sheffield Childrens NHS Fdn Trust, Dept Paediat Neurol, Sheffield, S Yorkshire, England
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- Lesca, Gaetan (författare)
- CHU Lyon, Serv Genet, Hosp Civils Lyon, Lyon, France
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- Wallgren-Pettersson, Carina (författare)
- Univ Helsinki, Dept Med & Clin Genet, Helsinki, Finland;Folkhaelsan Inst Genet, Helsinki, Finland
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- Hammer, Trine B. (författare)
- Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark
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- Raghavan, Ashok (författare)
- Sheffield Childrens NHS Fdn Trust, Dept Radiol, Sheffield, S Yorkshire, England
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- Poulat, Anne-Lise (författare)
- CHU Lyon, Serv Genet, Hosp Civils Lyon, Lyon, France
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- Möller, Rikke S. (författare)
- Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark;Univ Southern Denmark, Inst Reg Hlth Res, Odense, Denmark
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- Thuresson, Ann-Charlotte (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Balasubramanian, Meena (författare)
- Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England;Univ Sheffield, Dept Oncol & Metab, Acad Unit Child Hlth, Sheffield, S Yorkshire, England
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(creator_code:org_t)
- ELSEVIER SCI LTD, 2018
- 2018
- Engelska.
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Ingår i: European journal of paediatric neurology. - : ELSEVIER SCI LTD. - 1090-3798 .- 1532-2130. ; 22:6, s. 1095-1102
- Relaterad länk:
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https://helda.helsin...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter. Pathogenic variants in SLC35A2 cause a congenital disorder of glycosylation. The condition is rare, and less than twenty patients have been reported to-date. The phenotype is complex and has not been fully defined. Here, we present a series of five patients with de novo pathogenic variants in SLC35A2. The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and cortical visual impairment. Developmental and epileptic encephalopathy with hypsarrhythmia is present in most patients with SLC35A2 variants, and is drug-resistant in the majority of cases. Adrenocorticotropic hormone therapy may achieve partial or complete remission of seizures, but the effect is usually temporary. Isoelectric focusing of transferrins may be normal after infancy, therefore a congenital disorder of glycosylation should still be considered as a diagnosis in the presence of a suggestive phenotype. We also provide evidence that cortical visual impairment is part of the phenotypic spectrum.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- Developmental and epileptic encephalopathy
- Congenital disorders of glycosylation
- Intellectual disability
- SLC35A2
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Yates, T. Michae ...
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Suri, Mohnish
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Desurkar, Archan ...
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Lesca, Gaetan
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Wallgren-Petters ...
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Hammer, Trine B.
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visa fler...
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Raghavan, Ashok
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Poulat, Anne-Lis ...
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Möller, Rikke S.
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Thuresson, Ann-C ...
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Balasubramanian, ...
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Pediatrik
- Artiklar i publikationen
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European journal ...
- Av lärosätet
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Uppsala universitet