癫痫发作与X连锁智力障碍。
Seizures and X-linked intellectual disability.
作者信息
Stevenson Roger E, Holden Kenton R, Rogers R Curtis, Schwartz Charles E
机构信息
Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA.
出版信息
Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8.
Abstract
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual disability in almost half of these X-linked disorders. The spectrum of seizures found in the X-linked intellectual disability syndromes is broad, varying in time of onset, type of seizure, and response to anticonvulsant therapy. The majority of the genes associated with XLID and seizures have now been identified.
摘要
智力障碍作为一种孤立的X连锁性状出现，并作为可识别的X连锁综合征的一部分，伴有躯体、代谢、神经肌肉或行为异常。在这些X连锁疾病中，近一半伴有智力障碍的患者会出现癫痫发作。X连锁智力障碍综合征中发现的癫痫发作谱很广，在发作时间、发作类型和对抗惊厥治疗的反应方面存在差异。现在已经确定了与X连锁智力障碍和癫痫发作相关的大多数基因。
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3
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