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首页> Clinical EEG and neuroscience> The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.

The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.

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作者： Emel,Oguz Akarsu ^[1] ; Firdevs,Dinçsoy Bir ^[2] ; Can,Baykal ^[3] ; Volkan,Taşdemir ^[1] ; Bülent,Kara ^[4] ; Nerses,Bebek ^[1] ; Candan,Gürses ^[1] ; Oya,Uyguner ^[5] ; Betül,Baykan ^[1]

作者单位： 1 Departments of Neurology and Clinical Neurophysiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[1] 2 Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. ^[2] 3 Department of Dermatology and Venereology, Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[3] 4 Department of Pediatric Neurology, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey. ^[4] 5 Department of Medical Genetics, Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[5]

关键词 ECM1 gene mutation epilepsy ictal EEG lipoid proteinosis prognosis

主题词成年人(Adult);儿童(Child);脑电描记术(Electroencephalography);癫痫(Epilepsy);癫痫, 颞叶(Epilepsy, Temporal Lobe);细胞外基质蛋白质类(Extracellular Matrix Proteins);女(雌)性(Female);人类(Humans);Urbach-Wiethe类脂蛋白沉积症(Lipoid Proteinosis of Urbach and Wiethe);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);表型(Phenotype);预后(Prognosis);发作(Seizures)

DOI 10.1177/1550059417705280

PMID 28434238

发布时间 2018-09-13

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Clinical EEG and neuroscience

Clinical EEG and neuroscience

2018年49卷3期

192-196页

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