Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9797
Title: Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
Austin Authors: Berkovic, Samuel F ;Serratosa, Jose M;Phillips, Hilary A;Xiong, Lan;Andermann, Eva;Díaz-Otero, Fernando;Gómez-Garre, Pilar;Martín, Mercedes;Fernández-Bullido, Yolanda;Andermann, Frederick;Lopes-Cendes, Iscia;Dubeau, Francois;Desbiens, Richard;Scheffer, Ingrid E ;Wallace, Robyn H;Mulley, John C;Pandolfo, Massimo
Affiliation: Epilepsy Research Centre, University of Melbourne, Austin & Repatriation Medical Centre, Victoria, Australia
Issue Date: 1-Sep-2004
Publication information: Epilepsia; 45(9): 1054-60
Abstract: 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.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.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.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.
Gov't Doc #: 15329069
URI: http://ahro.austin.org.au/austinjspui/handle/1/9797
DOI: 10.1111/j.0013-9580.2004.30502.x
URL: https://pubmed.ncbi.nlm.nih.gov/15329069
Type: Journal Article
Subjects: Adolescent
Adult
Age of Onset
Canada
Child
Chromosome Mapping
Chromosomes, Human, Pair 22.genetics
Diagnosis, Differential
Epilepsies, Partial.diagnosis.genetics
Epilepsy, Frontal Lobe.diagnosis.genetics
Female
Genetic Linkage
Genetic Markers
Haplotypes
Humans
Lod Score
Male
Pedigree
Phenotype
Spain
Appears in Collections:Journal articles

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