Journal article

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

Alexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, Sarah E Buerki, Fiona Gardiner, J Helen Cross, Benedicte Heron, Anna Kaminska, Christian M Korff, Anne Lepine, Gaetan Lesca, Amy McTague, Heather C Mefford, Cyrill Mignot, Matthieu Milh, Amelie Piton, Ronit M Pressler, Susanne Ruf, Lynette G Sadleir, Anne de Saint Martin Show all

EPILEPSIA | WILEY | Published : 2021

Abstract

OBJECTIVE: 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. METHODS: 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. RESULTS: The phenotypic spectrum often comprised pharmacoresistant epilepsy with epil..

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University of Melbourne Researchers

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Funding Acknowledgements

A.N.D. has served on scientific advisory boards for UCB, Eisai, and Nutricia. He has consultancy activities for Roche, Idorsia, Neurocrine, and Epilog. He has received funding for travel from UCB, Sanofi, Eisai, and Nutricia. B.H. has received consulting fees and speaker honoraria from Actelion and Shire-Takeda, and travel expenses and congress fee reimbursements from Shire-Takeda and Sanofi Genzyme, and is an investigator for industrial studies and trials for Abeona Therapeutics, Lysogene, Orphazyme A/S, Idorsia, and Mallinckrodt Pharmaceuticals. I.E.S. serves/has served on the editorial boards of the Annals of Neurology, Neurology, and Epileptic Disorders; may accrue future revenue on pending patent WO61/010176 (filed: 2008): Therapeutic Compound; has a patent for SCN1A testing held by Bionomics and licensed to various diagnostic companies; has a patent for molecular diagnostic/theranostic target for benign familial infantile epilepsy (PRRT2) 2011904493 & 2012900190 and PCT/AU2012/001321 (TECH ID: 2012-009) with royalties paid; has served on scientific advisory boards for UCB, Eisai, GlaxoSmithKline, BioMarin, Nutricia, Rogcon, and Xenon Pharmaceuticals; has received speaker honoraria from GlaxoSmithKline, UCB, BioMarin, Biocodex, and Eisai; has received funding for travel from UCB, Biocodex, GlaxoSmithKline, Biomarin, and Eisai; and has consulted for Zynerba Pharmaceuticals, Atheneum Partners, Ovid Therapeutics, and UCB. R.M.P. has served on scientific advisory boards for UCB and Eisai. She does consultancy activities for UCB. Her research is supported by the National Institute of Health Research (NIHR) Biomedical Research Centre at Great Ormond Street Hospital, NIHR, and GOSH Charity. J.H.C. has acted as an investigator for studies with GW Pharma, Zogenix, Vitaflo, and Marinius. She has been a speaker and on advisory boards for GW Pharma, Zogenix, and Nutricia; all remuneration has been paid to her department. Her research is supported by the NIHR Biomedical Research Centre at Great Ormond Street Hospital, NIHR, EPSRC, GOSH Charity, ERUK, and the Waterloo Foundation. None of the other authors has any conflict of interest to disclose.