Epilepsy Research 114 (2015) 98–105 Contents lists available at www.sciencedirect.com Epilepsy Research journa l h om epa ge: www.elsevier.com/locate/epilepsyres Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome Lynette G. Sadleir a,* , Sarah Paterson a , Katherine R. Smith b,c , Natalie Redshaw a , Annemarei Ranta d , Renate Kalnins e , Samuel F. Berkovic f , Melanie Bahlo b,c,g , Michael S. Hildebrand f , Ingrid E. Scheffer f,h,i a Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand b The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia c Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia d Department of Medicine, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand e University of Melbourne, Austin Health, Pathology, Melbourne, VIC, Australia f Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia g Department of Mathematics and Statistics, The University of Melbourne, Melbourne, VIC, Australia h Florey Institute, University of Melbourne, Melbourne, VIC, Australia i Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne, VIC, Australia a r t i c l e i n f o Article history: Received 11 February 2015 Received in revised form 9 April 2015 Accepted 23 April 2015 Available online 5 May 2015 Keywords: Genetic Progressive myoclonus epilepsy Juvenile myoclonic epilepsy Idiopathic photosensitive occipital epilepsy a b s t r a c t 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 seizures. Six individuals had convulsive seizures; generalized in two and focal in four. Photosensitivity was promi- nent with generalized spike wave and polyspike wave in four individuals of which two also had occipital spikes. MRI scans were normal in the four individuals tested. Extensive metabolic investigation was normal. Juvenile myoclonic epilepsy (JME) occurred in two; and JME overlapping with idiopathic photosen- sitive epilepsy (IPOE) in four individuals. All three affected males had a more severe disorder than the four affected females. Two males had a progressive neurological disorder with progressive myoclonus epilepsy and deterioration in their early 30s. They developed episodes of paroxysmal cervical dystonia with cognitive decline during periods of poor seizure control. One plateaued after years of poor seizure control but remained intractable with periods of deterioration. The other deteriorated with episodes of status dystonicus and status epilepticus, ataxia and a progressive ophthalmoplegia before succumbing at 38 years. Parametric linkage analysis identified three peaks achieving a maximum LOD score of 1.21. Nonpara- metric analysis identified eight peaks achieving LOD scores above 0.80. These were not statistically significant. Conclusions: This is a novel autosomal dominant familial epilepsy syndrome. “Myoclonic occipital pho- tosensitive epilepsy with dystonia” (MOPED) involves a spectrum of phenotypes from JME, sometimes with an IPOE overlap, to progressive myoclonus epilepsy with paroxysmal dystonia. © 2015 Elsevier B.V. All rights reserved. * Corresponding author. Tel.: +64 4 385 5999x6138; fax: +64 4 385 5898. E-mail address: Lynette.sadleir@otago.ac.nz (L.G. Sadleir). http://dx.doi.org/10.1016/j.eplepsyres.2015.04.014 0920-1211/© 2015 Elsevier B.V. All rights reserved.