Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
BACKGROUND
Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in different family members in the absence of detectable structural abnormalities. A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families.


METHODS
We describe the clinical features and performed a linkage analysis in a Spanish kindred and in a third French-Canadian family distantly related to the original pedigrees.


RESULTS
Onset of seizures was typically in middle childhood, and attacks were usually easy to control. Seizure semiology varied among family members but was constant for each individual. In some, a pattern of nocturnal frontal lobe seizures led to consideration of the diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The Spanish family was mapped to chromosome 22q (multipoint lod score, 3.4), and the new French-Canadian family had a multipoint lod score of 2.97 and shared the haplotype of the original French-Canadian families.


CONCLUSIONS
Identification of the various forms of familial partial epilepsy is challenging, particularly in small families, in which insufficient individuals exist to identify a specific pattern. We provide clinical guidelines for this task, which will eventually be supplanted by specific molecular diagnosis. We confirmed linkage of FPEVF to chromosome 22q12 and redefined the region to a 5.2-Mb segment of DNA.
Epilepsy Research Centre, University of Melbourne, Austin & Repatriation Medical Centre, Victoria, Australia. s.berkovic@unimelb.edu.au
Samuel F
SF
Berkovic
Jose M
JM
Serratosa
Hilary A
HA
Phillips
Lan
L
Xiong
Eva
E
Andermann
Fernando
F
Díaz-Otero
Pilar
P
Gómez-Garre
Mercedes
M
Martín
Yolanda
Y
Fernández-Bullido
Frederick
F
Andermann
Iscia
I
Lopes-Cendes
Francois
F
Dubeau
Richard
R
Desbiens
Ingrid E
IE
Scheffer
Robyn H
RH
Wallace
John C
JC
Mulley
Massimo
M
Pandolfo
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002170:Canada; D002648:Child; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003937:Diagnosis, Differential; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics*; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013030:Spain
D005819:Genetic Markers