Case report
Open access
Sep 2026
Drug-resistant epilepsy in an autosomal recessive copper metabolism disorder from SLC33A1 mutation
SLC33A1 mutation (Huppke-Brendel Syndrome) is a rare, autosomal recessive disorder associated with copper metabolism and characterized by global developmental delay, sensorineural hearing loss, congenital cataract and generalized hypotonia. We report two siblings under 6 years with novel SLC33A1 gene mutation, born fro...
Raunak Singh, Cheng-Yen Kuo, Shelja Sharma et al.
· Epilepsy & Behavior Reports · 0 citations