title: Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.
abstract: OBJECTIVE
  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 prominent 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 photosensitive 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. Nonparametric 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 photosensitive epilepsy with dystonia" (MOPED) involves a spectrum of phenotypes from JME, sometimes with an IPOE overlap, to progressive myoclonus epilepsy with paroxysmal dystonia.
authors.affiliation: Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand. Electronic address: Lynette.sadleir@otago.ac.nz.
authors.forename: Lynette G
authors.initials: LG
authors.lastname: Sadleir
authors.affiliation: Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
authors.forename: Sarah
authors.initials: S
authors.lastname: Paterson
authors.affiliation: The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia; Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia.
authors.forename: Katherine R
authors.initials: KR
authors.lastname: Smith
authors.affiliation: Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
authors.forename: Natalie
authors.initials: N
authors.lastname: Redshaw
authors.affiliation: Department of Medicine, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
authors.forename: Annemarei
authors.initials: A
authors.lastname: Ranta
authors.affiliation: University of Melbourne, Austin Health, Pathology, Melbourne, VIC, Australia.
authors.forename: Renate
authors.initials: R
authors.lastname: Kalnins
authors.affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia.
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.affiliation: The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia; Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia; Department of Mathematics and Statistics, The University of Melbourne, Melbourne, VIC, Australia.
authors.forename: Melanie
authors.initials: M
authors.lastname: Bahlo
authors.affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hildebrand
authors.affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia; Florey Institute, University of Melbourne, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D003072:Cognition Disorders / Q000209:etiology / Q000523:psychology; D004247:DNA / Q000235:genetics; D020821:Dystonic Disorders / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D004831:Epilepsies, Myoclonic / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007178:Inbreeding; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020190:Myoclonic Epilepsy, Juvenile / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D012640:Seizures / Q000503:physiopathology; D013577:Syndrome; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D004247:DNA
keywords: Genetic; Idiopathic photosensitive occipital epilepsy; Juvenile myoclonic epilepsy; Progressive myoclonus epilepsy