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International multicenter study demonstrates epilepsy is a manifestation of central nervous system involvement in classic infantile Pompe disease, highlighting the need for neurological surveillance.
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.
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Faraguna et al. (2026) studied this question.
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