BFNC

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

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

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

背景和目的良性家族性新生儿惊厥（Benign Familial Neonatal Convulsions，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。

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

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。

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