良性家族性新生儿惊厥

网络BFNC;Benign familial neonatal convulsion, BFNC;BFNS;benign familial neonataI convulsion;benign neonatal familial convulsion

良性家族性新生儿惊厥

1

目的探讨良性家族性新生儿惊厥（BFNC）的临床特征及遗传学特点。

Objective To explore the clinical and genetic characteristics of benign familial neonatal convulsion ( BFNC ) .
2

目的对一个中国良性家族性新生儿惊厥（BenignFamilialNeonatalConvulsions，BFNC）家系进行基因诊断，并探讨其分子发病机理。

Objective To diagnose a Chinese benign familial neonatal convulsions ( BFNC ) family at the level of gene and investigate its molecular pathogenesis .
3

背景和目的良性家族性新生儿惊厥（BenignFamilialNeonatalConvulsions，BFNC）是一种罕见的原发性癫痫综合征，呈常染色体显性遗传，患病率约为1／10万。

Background and objective Benign familial neonatal convulsions ( BFNC ) is a rare autosomal dominant inherited epileptic syndrome , characterized by unprovoked convulsions .
4

良性家族性新生儿惊厥三家系的基因诊断研究

Genetic study on 3 Chinese families with benign familial neonatal seizures