A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood. (October 2017)

• Record Type: Journal Article
• Authors: Yildiz, Edibe Pembegul; Yesil, Gozde; Ozkan, Melis Ulak; Bektas, Gonca; Caliskan, Mine; Ozmen, Meral
• Is Part Of: Seizure. Volume 51(2017)
• Page Start: 77
• Page End: 79
• Publication Date: 2017-10
• Subjects: Lafora disease -- Parkinsonism -- EPM2A -- Childhood; Epilepsy -- Periodicals; Epilepsy -- Periodicals; Seizures -- Periodicals; Épilepsie -- Périodiques; Electronic journals; Electronic journals; 616.853
• DOI: 10.1016/j.seizure.2017.07.011
• Languages: English
• ISSNs: 1059-1311

Abstract

Highlights: Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy. We present a child with molecularly diagnosed LD who developed parkinsonism in early childhood. Lafora disease patient with a novel mutation in EPM2A gene presenting with early onset parkinsonism and severe neurocognitive decline.