Journal article

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

Lynette G Sadleir, Sarah Paterson, Katherine R Smith, Natalie Redshaw, Annemarei Ranta, Renate Kalnins, Samuel F Berkovic, Melanie Bahlo, Michael S Hildebrand, Ingrid E Scheffer

Epilepsy Research | ELSEVIER | Published : 2015

Abstract

PURPOSE: To describe clinical and EEG phenotypes of a family with an unusual familial epilepsy syndrome characterized by myoclonus and dystonia. METHODS: Family members underwent electroclinical phenotyping including review of EEGs and MRI. DNA from family members was genotyped using Illumina OmniExpress genotyping arrays. Parametric and nonparametric linkage analyses were performed using MERLIN. RESULTS: The disorder followed autosomal dominant (AD) inheritance and affected seven individuals over two generations. Seizures began at a mean of 14.5 years. Six individuals had spontaneous myoclonic seizures, of which five also had photic-induced myoclonus and four had photic-induced occipital se..

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