Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease
Enzyme replacement therapy has not only significantly improved motor outcome and survival in patients with classic infantile Pompe disease, but also revealed previously unrecognized central nervous system (CNS) involvement. In this international study, involving patients from the Netherlands, Italy, Argentina, Germany, the United Kingdom, and Taiwan, we investigated whether epilepsy should be considered part of the CNS phenotype.
Authors
- Yin‐Hsiu Chien (ORCID: https://orcid.org/0000-0001-8802-5728)
- Martha Caterina Faraguna (ORCID: https://orcid.org/0000-0003-3426-2749)
- Elena Procopio (ORCID: https://orcid.org/0000-0002-8534-9951)
- Andreas Hahn (ORCID: https://orcid.org/0000-0003-0235-5211)
- Ans T. van der Ploeg (ORCID: https://orcid.org/0000-0002-3359-1324)
- Francesca Menni (ORCID: https://orcid.org/0000-0003-2724-2811)
- Alexander Broomfield (ORCID: https://orcid.org/0000-0001-5674-0882)
- Nicole Muschol (ORCID: https://orcid.org/0000-0003-4213-7294)
- Hui‐An Chen (ORCID: https://orcid.org/0000-0003-2103-9062)
- Gaia Kullmann
- Federica Deodato (ORCID: https://orcid.org/0000-0002-1914-6048)
- Serena Gasperini (ORCID: https://orcid.org/0000-0001-8743-4407)
- Hernán Amartino
- Johanna M.P. Van Den Hout
Institutions
- Universität Hamburg (DE)
- Justus-Liebig-Universität Gießen (DE)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Erasmus MC (NL)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Hospital Universitario Austral (AR)
- St Mary's Hospital (GB)
- University Medical Center Hamburg-Eppendorf (DE)
- Azienda Ospedaliera San Gerardo (IT)
- Meyer Children's Hospital (IT)
- Bambino Gesù Children's Hospital (IT)
- National Taiwan University Hospital (TW)
- University of Milano-Bicocca (IT)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-09-01
- DOI
- https://doi.org/10.1212/nxg.0000000000200432
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 5.50