Sadleir Lynette G, Paterson Sarah, Smith Katherine R, Redshaw Natalie, Ranta Annemarei, Kalnins Renate, Berkovic Samuel F, Bahlo Melanie, Hildebrand Michael S, Scheffer Ingrid E
Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
Epilepsy Res. 2015 Aug;114:98-105. doi: 10.1016/j.eplepsyres.2015.04.014. Epub 2015 May 5.
To describe clinical and EEG phenotypes of a family with an unusual familial epilepsy syndrome characterized by myoclonus and dystonia.
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.
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.
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.
描述一个以肌阵挛和肌张力障碍为特征的不寻常家族性癫痫综合征家系的临床和脑电图表型。
家庭成员接受了电临床表型分析，包括脑电图和磁共振成像（MRI）检查。使用Illumina OmniExpress基因分型芯片对家庭成员的DNA进行基因分型。使用MERLIN进行参数和非参数连锁分析。
该疾病遵循常染色体显性（AD）遗传，两代中有7人患病。癫痫发作平均始于14.5岁。6人有自发性肌阵挛发作，其中5人也有光诱导性肌阵挛，4人有光诱导性枕叶癫痫发作。6人有惊厥性发作；2人为全身性发作，4人为局灶性发作。4人有明显的光敏性，伴有全身性棘波和多棘波，其中2人也有枕叶棘波。4名接受检查的个体MRI扫描正常。广泛的代谢检查正常。2人患有青少年肌阵挛癫痫（JME）；4人患有JME重叠特发性光敏性癫痫（IPOE）。3名受影响的男性病情比4名受影响的女性更严重。2名男性患有进行性神经系统疾病，伴有进行性肌阵挛癫痫，并在30岁出头时病情恶化。他们在癫痫控制不佳期间出现阵发性颈部肌张力障碍发作，并伴有认知功能下降。1人在多年癫痫控制不佳后病情稳定，但仍难以治疗，时有病情恶化。另1人在38岁去世前，因肌张力障碍状态和癫痫持续状态、共济失调和进行性眼肌麻痹发作而病情恶化。参数连锁分析确定了3个峰值，最大对数优势（LOD）评分为1.21。非参数分析确定了8个峰值，LOD评分高于0.80。这些均无统计学意义。
这是一种新型的常染色体显性家族性癫痫综合征。“伴有肌张力障碍的肌阵挛性枕叶光敏性癫痫”（MOPED）涉及一系列表型，从JME（有时与IPOE重叠）到伴有阵发性肌张力障碍的进行性肌阵挛癫痫。
