Article
The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.
Clinical EEG and neuroscience - 1 May 2018
Oguz Akarsu Emel, Dinçsoy Bir Firdevs, Baykal Can, Taşdemir Volkan, Kara Bülent, Bebek Nerses, Gürses Candan, Uyguner Oya, Baykan Betül
Abstract excerpt
Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial...
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