Article
The second family affected with a PRDM8-related disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2022
Davarzani Atefeh, Shahrokhi Amin, Hashemi Seyyed Saleh, Ghasemi Aida, Habibi Kavashkohei Mohammad Reza, Farboodi Niloofar, Lang Anthony E, Ghiasi Maryam, Rohani Mohammad, Alavi Afagh
Abstract excerpt
INTRODUCTION: Lafora disease (LD) is a severe form of progressive myoclonus epilepsy characterized by generalized seizures, myoclonus, intellectual decline, ataxia, spasticity, dysarthria, visual loss, and in later stages, psychosis and dementia. To date, mutations in the EPM2A and EPM2B/NHLRC1 genes have been identified as the common causes of LD. However, a mutation in PRDM8 has been reported only once in a...
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