良性家族性新生儿惊厥与D20S19和D20S20连锁关系的确认。

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

作者信息

Malafosse A, Leboyer M, Dulac O, Navelet Y, Plouin P, Beck C, Laklou H, Mouchnino G, Grandscene P, Vallee L

机构信息

Laboratoire de Médecine Expérimentale, INSERM U.249, CNRS UPR 41, Montpellier, France.

出版信息

Hum Genet. 1992 Apr;89(1):54-8. doi: 10.1007/BF00207042.

DOI:10.1007/BF00207042

PMID:1577466

Abstract

Benign familial neonatal convulsions (BFNC) is an idiopathic form of epilepsy beginning within the first six months of life. Its genetic origin and autosomal dominant mode of inheritance have been suspected since its first description. Recently, the BFNC gene has been localised within chromosome 20q in one large pedigree. For the first time, we confirm here (with D20S19 and D20S20) the close linkage of BFNC to chromosome 20q in six French pedigrees. In addition, the existence in these families of several cases of febrile convulsions (FC), another epileptic syndrome with an autosomal dominant genetic component, led us to study the possibility of a genetic background identical to BFNC. Our results suggest the existence of different susceptibility genes for BFNC and FC.

摘要

良性家族性新生儿惊厥（BFNC）是一种特发性癫痫形式，始于生命的前六个月。自首次描述以来，人们就怀疑其具有遗传起源和常染色体显性遗传模式。最近，在一个大家族中，BFNC基因已定位在20号染色体上。我们首次在此（利用D20S19和D20S20）证实了在六个法国家族中BFNC与20号染色体的紧密连锁。此外，这些家族中存在几例热性惊厥（FC），这是另一种具有常染色体显性遗传成分的癫痫综合征，这促使我们研究与BFNC相同遗传背景的可能性。我们的结果表明，BFNC和FC存在不同的易感基因。