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[一个青少年肌阵挛癫痫家族的临床系谱研究]

[A clinico-genealogical study of a family with juvenile myoclonic epilepsy].

作者信息

Paziuk E M, Mukhin K Iu, Khomiakova S P, Levin P G

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 1996;96(2):83-7.

PMID:8754350
Abstract

Juvenile myoclonic epilepsy (JME) is idiopathic generalized epilepsy of teenagers characterized by massive myoclonic fits. It is supposed to be of hereditary nature with location of the gene on the short arm of the 6th chromosome. A family is described where two sibs suffered from JME attacks while their uncle had isolated generalized convulsive seizures. The autosomal recessive pattern of JME inheritance was suggested. JME gene may be linked to the genes which determine photosensitivity and fast generalized spike or polyspike EEG activity. High frequency of neuroendocrine disturbances in JME patients is emphasized.

摘要

青少年肌阵挛性癫痫(JME)是青少年特发性全身性癫痫,其特征为大量肌阵挛发作。它被认为具有遗传性质,基因位于第6号染色体的短臂上。本文描述了一个家族,其中两个同胞患有JME发作,而他们的叔叔有孤立性全身性惊厥发作。提示JME的常染色体隐性遗传模式。JME基因可能与决定光敏性和快速全身性棘波或多棘波脑电图活动的基因相关。强调了JME患者中神经内分泌紊乱的高发生率。

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