Disease relevance of FPEVF

• We identified two large French-Canadian families segregating a familial partial epilepsy syndrome with variable foci (FPEVF) characterized by mostly nocturnal seizures arising from frontal, temporal, and occasionally occipital epileptic foci [1].
• PURPOSE: Three forms of idiopathic partial epilepsy with autosomal dominant inheritance have been described: (a) autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); (b) autosomal dominant lateral temporal epilepsy (ADLTE) or partial epilepsy with auditory features (ADPEAF); and (c) familial partial epilepsy with variable foci (FPEVF) [2].

High impact information on FPEVF

• An Australian family with a similar phenotype was not found to link to chromosome 22, indicating genetic heterogeneity of FPEVF [1].
• The main familial focal epilepsies are autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE), familial mesial TLE (FMTLE), familial lateral TLE (FLTLE), and familial partial epilepsy with variable foci (FPEVF) [3].
• We confirmed linkage of FPEVF to chromosome 22q12 and redefined the region to a 5.2-Mb segment of DNA [4].
• Here we describe linkage analysis in a Dutch four-generation family with epilepsy fulfilling criteria of both ADNFLE and FPEVF [2].

Analytical, diagnostic and therapeutic context of FPEVF

• The frequent occurrence of seizures during daytime and the observation of interictal EEG abnormalities originating from different cortical areas were more in agreement with FPEVF [2].

References