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An autosomal recessive form of benign familial neonatal seizures

✍ Scribed by Raphael Schiffmann; Yehuda Shapira; Stephen G. Ryan

Book ID
115090274
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
223 KB
Volume
40
Category
Article
ISSN
0009-9163

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Benign infantile familial convulsions ar
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene
✍ Dr. A. Malafosse; C. Beck; H. Bellet; M. Di Capua; O. Dulac; B. Echenne; L. Fusc πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 480 KB πŸ‘ 1 views

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.

Benign familial neonatal-infantile seizu
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
✍ Samuel F. Berkovic; Sarah E. Heron; Lucio Giordano; Carla Marini; Renzo Guerrini πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 142 KB

## Abstract We recently reported mutations in the sodium channel gene __SCN2A__ in two families with benign familial neonatal‐infantile seizures (BFNISs). Here, we aimed to refine the molecular‐clinical correlation of __SCN2A__ mutations in early childhood epilepsies. __SCN2A__ was analyzed in 2 fa