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良性家族性新生儿惊厥:一个患有罕见疾病的家庭。

Benign familial neonatal convulsions: A family with a rare disorder.

作者信息

Singh Harbag, Raj Rajnish

机构信息

Department of Neurology, Government Medical College, Rajindera Hospital, Patiala - 147 001, Punjab State, India.

出版信息

Ann Indian Acad Neurol. 2008 Jan;11(1):49-51. doi: 10.4103/0972-2327.40227.

Abstract

The authors report a family from Punjab (India) with 10 members having benign familial neonatal convulsions (also known as benign familial neonatal seizures) in two generations. This disorder is quite rare. The clinical presentation of index case along with the findings of computed tomography of the brain and electroencephalograph is described. Important features of all the family members along with a brief review of the literature are also given.

摘要

作者报告了一个来自印度旁遮普邦的家族,两代人中共有10名成员患有良性家族性新生儿惊厥(也称为良性家族性新生儿癫痫发作)。这种疾病相当罕见。文中描述了首例病例的临床表现以及脑部计算机断层扫描和脑电图检查结果。还给出了所有家族成员的重要特征,并对相关文献进行了简要综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d85f/2781147/ce60936bbbec/AIAN-11-49-g001.jpg

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