Searching genetic markers for benign familial infantile convulsions in an Argentinian family

RAUSCHEMBERGER, M. B.; VECCHI, C.; BARRANTES, F. J.

Porto Seguro, Bahía, Brasil, del 11 al 14 de Septiembre de 2002

Congreso; III Latin – American Chapter Congress of IFCN and IX Brazilian Symposium of Clinical Neurophysiology; 2002

IFCN

Objective: Identify the affected locus in a family with 33 individuals with 12 patients diagnosed with familial infantile convulsions (BFIC). This pathology is an autosomal dominant disorder with partial seizures and onset between 4 and 8 months, without detectable neurologic abnormality and normal psychomotor development. Methods: Analysis of short tandem repeats (STRSs) of different locus, like sodium channels (SCN1B subunit, chromosome 19) and acetylcholine receptor ( a4 a7 subunits, chromosome 20, respectively). Results: Linkage analysis was performed using the MLINK option of the linkage program 5.1 version. Our linkage study demonstrates that the studied markers for locus on chromosome 19, 20 and 15 does not represent major locus for BFIC and this suggest locus heterogeneity within the BFIC phenotype. Actually we are analyzing markers on chromosome 2, probably related with this type of epilepsy.