A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

Autor: CD van Karnebeek, Eric B. Toyota, Shelin Adam, Aspasia Michoulas, Tanya N. Nelson, Ilaria Guella, Mary B. Connolly, Kathy Selby, Patrice Eydoux, Gabriella Horvath, MB Demos, Sarah E. Buerki, Cyrus Boelman, MI van Allen, Marna B. McKenzie, Matthew J. Farrer, Derek Evans, Anita N Datta, L Huh

Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 43:S7-S7

Background: Epileptic encephalopathy (EE) is a severe condition in which epileptic activity itself may contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. Next genera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cdb59b4723f8f0824359d8f0ed97e693
https://doi.org/10.1017/cjn.2016.53

KCNQ2 mutations: genotype-phenotype association beyond epilepsy

Autor: Sarah E. Buerki, Z Abu Sharar, Mary B. Connolly, Anita N Datta, Cyrus Boelman, CD van Karnebeek, MI van Allen, Michelle Demos, Bryan Sayson, GA Horwath

Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 42:S8-S8

Background: KCNQ2 abnormalities were described in infants with benign familial neonatal seizures (BFNS) and epileptic encephalopathy (EE). Associated features possibly include abnormal neuroimaging findings such as hypomyelination and/or T2 high sign

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf6afa7b6c21fe12ad58db923254e22b
https://doi.org/10.1017/cjn.2015.66

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

Autor: Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Van Den Broeck F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium., Brands MM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., van Karnebeek CD; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Bergen AA; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Centre Rotterdam, Rotterdam, Netherlands., De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Leroy BP; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Boon CJF; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Ophthalmology, Leiden University Medical Centre, Leiden, Netherlands., Diederen RMH; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands. r.m.diederen@amsterdamumc.nl.

Publikováno v: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Nov; Vol. 262 (11), pp. 3589-3596. Date of Electronic Publication: 2024 Jun 07.

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Autor: Balfoort BM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Pampalone G; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis SW; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Timmer C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Cellini B; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: s.ferdinandusse@amsterdamumc.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108542. Date of Electronic Publication: 2024 Jul 19.

Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233].

Autor: Hollander BD; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, the Netherlands., Rothuizen-Lindenschot M; HAN University of Applied Sciences, Nijmegen, the Netherlands., Geertjens L; Amsterdam UMC Location Vrije Universiteit Amsterdam, Child and Adolescent Psychiatry and Psychosocial Care, Emma Children's Hospital, Boelelaan, 1117, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, N=You Neurodevelopmental Precision Center, Amsterdam Neuroscience, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands., Vaz FM; United for Metabolic Diseases, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, Department of Core Facility Metabolomics, Meibergdreef 9, Amsterdam, the Netherlands., Brands MM; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, the Netherlands., Le HL; Amsterdam UMC Location University of Amsterdam, Department of Hospital Pharmacy, Meibergdreef 9, Amsterdam, the Netherlands.; Platform Medicine for Society, Amsterdam, the Netherlands., van Eeghen AM; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; Advisium, 's Heerlen Loo Zorggroep, Amersfoort, the Netherlands., van de Ven PM; University Medical Center Utrecht, Department of Data Science and Biostatistics, Julius Center for Health Sciences and Primary Care, Heidelberglaan 100, Utrecht, the Netherlands., Cornel MC; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; Amsterdam UMC Location Vrije Universiteit van Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands., Jacobs BAW; Platform Medicine for Society, Amsterdam, the Netherlands.; Antoni van Leeuwenhoek, Department of Pharmacy and Clinical Pharmacology, Plesmanlaan 121, Amsterdam, the Netherlands., Bruining H; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; Amsterdam UMC Location Vrije Universiteit Amsterdam, Child and Adolescent Psychiatry and Psychosocial Care, Emma Children's Hospital, Boelelaan, 1117, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, N=You Neurodevelopmental Precision Center, Amsterdam Neuroscience, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands., van Karnebeek CD; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, the Netherlands.; Amsterdam UMC Location Vrije Universiteit van Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands.

Publikováno v: Contemporary clinical trials communications [Contemp Clin Trials Commun] 2024 Feb 01; Vol. 38, pp. 101264. Date of Electronic Publication: 2024 Feb 01 (Print Publication: 2024).