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

✍ Scribed by Alain Malafosse; Marion Leboyer; Olivier Dulac; Yvonne Navelet; Perrine Plouin; Corinne Beck; Hassan Laklou; Geneviève Mouchnino; Pierre Grandscene; Louis Vallee; Michel Guilloud-Bataille; Daniéle Samolyk; Michel Baldy-Moulinier; Josué Feingold; Jacques Mallet

Book ID
104664421
Publisher
Springer
Year
1992
Tongue
English
Weight
474 KB
Volume
89
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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Benign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are two forms of familial convulsions having an age of onset within the first year of life. The gene responsible for BFNC has been mapped to chromosome 20q in the close vicinity of D20S19 and D20S20 markers.