Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation

被引：0

作者：

Espay, AJ ^{[1
]}

Andrade, DM ^{[1
]}

Wennberg, RA ^{[1
]}

Lang, AE ^{[1
]}

机构：

[1] Univ Toronto, Toronto Western Hosp, Dept Neurol, Toronto, ON M5T 2S8, Canada

来源：

EPILEPTIC DISORDERS | 2005年 / 7卷 / 03期

关键词：

Angelman syndrome; UBE3A mutation; non-convulsive status epilepticus; absence status;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Angelman syndrome is a neurogenetic disorder resulting in refractory epilepsy and profound psychomotor retardation in its most prevalent form, caused by deletion of maternal chromosome 15q11-13. We report the case of a 29-year-old, mentally retarded man with unusual electroencephalographic changes during periods of atypical absence status epilepticus, a previously unreported manifestation of the usually milder, drug-responsive epilepsy associated with Angelman syndrome due to the UBE3A mutation.

引用

页码：227 / 230

页数：4

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