Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25626
Title: The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Austin Authors: Datta, Alexandre N;Bahi-Buisson, Nadia;Bienvenu, Thierry;Buerki, Sarah E;Gardiner, Fiona;Cross, J Helen;Heron, Bénédicte;Kaminska, Anna;Korff, Christian M;Lepine, Anne;Lesca, Gaetan;McTague, Amy;Mefford, Heather C;Mignot, Cyrill;Milh, Matthieu;Piton, Amélie;Pressler, Ronit M;Ruf, Susanne;Sadleir, Lynette G;de Saint Martin, Anne;Van Gassen, Koen;Verbeek, Nienke E;Ville, Dorothée;Villeneuve, Nathalie;Zacher, Pia;Scheffer, Ingrid E ;Lemke, Johannes R
Affiliation: Pediatric Neurology and Developmental Medicine Department, University Children's Hospital, University of Basel, Basel, Switzerland
Pediatric Neurology, Necker-Enfants Malades Children's Hospital, Paris and Institute IMAGINE, INSERM U1163, University of Paris, Paris, France
Paris Institute of Psychiatry and Neuroscience, University of Paris, Paris, France
Pediatric Neurology Department, University Children's Hospital Zürich, Switzerland
Clinical Neuroscience, University College London-Great Ormond Street Institute of Child Health, London, UK
Pediatric Neurology Department, Armand Trousseau-La Roche Guyon University Hospital, APHP and GRC No. 19, Sorbonne Universities, Paris, France
Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, Public Hospital Network of Paris, Paris, France
Pediatric Neurology Unit, Department of Pediatrics, Geneva University Hospital, Geneva, Switzerland
Pediatric Neurology and Metabolic Diseases Department, University Hospital La Timone, Marseilles, France
Department of Medical Genetics, Lyon University Hospital, Lyon, France
Clinical Neuroscience, University College London-Great Ormond Street Institute of Child Health, London, UK
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA
Department of Genetics and Reference Center for Intellectual Deficiencies of Rare Causes, , Sorbonne University, Paris, France
Pediatric Neurology Unit, Department of Pediatrics, Geneva University Hospital, Geneva, Switzerland
Department of Molecular Genetics, University Hospital Strasbourg, Strasbourg, France
Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany
Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
Pediatric Neurology Unit, Department of Pediatrics, University Hospital Strasbourg, Strasbourg, France
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Pediatric Neurology Department and Reference Center of Rare Epilepsies, Mother Child Women's Hospital, Lyon University Hospital, France
Pediatric Neurology and Metabolic Diseases Department, University Hospital La Timone, Marseilles, France
Epilepsy Center Kleinwachau, Radeberg, Germany
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
Department of Paediatrics, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, University of Melbourne, Melbourne, Victoria, Australia
Austin Health
Clinical Neuroscience, University College London-Great Ormond Street Institute of Child Health, London, UK
Department of Neurophysiology, Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, UK
Issue Date: 7-Jan-2021
Date: 2021-02
Publication information: Epilepsia 2021; 62(2): 325-334
Abstract: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis. We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic ALG13 variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic ALG13 variants. The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6 months of life and with spasm persistence in one-half of the cases. Tonic seizures were the most prevalent additional seizure type. Electroencephalography showed hypsarrhythmia and at a later stage of the disease in one-third of all cases paroxysms of fast activity with electrodecrement. ALG13-related DEE was usually associated with severe to profound developmental delay; ambulation was acquired by one-third of the cases, whereas purposeful hand use was sparse or completely absent. Hand stereotypies and dyskinetic movements including dystonia or choreoathetosis were relatively frequent. Verbal communication skills were absent or poor, and eye contact and pursuit were often impaired. X-linked ALG13-related DEE usually manifests as West syndrome with severe to profound developmental delay. It is predominantly caused by the recurrent de novo missense variant p.(Asn107Ser). Comprehensive functional studies will be able to prove or disprove an association with congenital disorder of glycosylation.
URI: https://ahro.austin.org.au/austinjspui/handle/1/25626
DOI: 10.1111/epi.16761
ORCID: 0000-0002-2218-8484
0000-0003-3805-6651
0000-0001-7691-9492
0000-0002-2905-6839
0000-0002-5355-7115
0000-0001-9432-4409
0000-0002-2311-2174
Journal: Epilepsia
PubMed URL: 33410528
Type: Journal Article
Subjects: ALG13
West syndrome
developmental and epileptic encephalopathy
epileptic spasms
Appears in Collections:Journal articles

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