脑病：一种独特的全面性发育及癫痫性脑病。
encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
机构信息
From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.
出版信息
Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12.
OBJECTIVE
To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.
METHODS
Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21.32 microdeletions incorporating . We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos.
RESULTS
We included 57 patients (53% male, median age 8 years) with mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%).
CONCLUSIONS
mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.
目的
描绘一大患者队列中的癫痫学特征，这是表型谱的关键部分。
方法
通过研究者的实践或社交媒体招募患者。我们纳入了具有（可能）致病性变异或 6p21.32 微缺失的患者，该缺失包含 。我们使用标准化的癫痫问卷、病历、脑电图、磁共振成像和发作视频分析患者的表型。
结果
我们纳入了 57 名患者（53%为男性，中位年龄为 8 岁），其中 53 名患者携带 突变，4 名患者携带微缺失。在这 57 名患者中，56 名患有癫痫：全身性癫痫 55 例，局灶性发作 7 例，婴儿痉挛 1 例。中位发病年龄为 2 岁。我们确定了一种新的跌倒发作类型，包括眼睑肌阵挛演变为肌阵挛-失张力（n=5）或失张力（n=8）发作。发作类型包括眼睑肌阵挛伴失神（65%）、肌阵挛发作（34%）、非典型（20%）和典型（18%）失神发作以及失神发作（14%），其中 25%由进食诱发。在有早期发育史的 56 名患者中，54 名（96%）患者的发育迟缓先于癫痫发作。在 56 名患有癫痫性脑病（DEE）的患者中，发育停滞或倒退与癫痫发作同时发生。57 名患者中有 55 名（96%）有智力障碍，其中 50 名有中重度智力障碍。其他常见特征包括行为问题（73%）、高痛阈（72%）、进食问题，包括口腔厌恶（68%）、低张力（67%）、睡眠问题（62%）、自闭症谱系障碍（54%）和共济失调或步态异常（51%）。
结论
突变导致全身性 DEE，其特征性综合征结合了癫痫、眼睑肌阵挛伴失神和肌阵挛-失张力发作，以及对进食诱发的癫痫发作的易感性。
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