Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.
The genetic analysis of simple Mendelian epilepsies remains a key strategy in advancing our understanding of epilepsy. In this article, we describe a new family epilepsy syndrome, partial epilepsy with pericentral spikes, which we map to chromosome 4p15. We distinguish it clinically, electrophysiologically, and genetically from previously described Mendelian epilepsies. The family described is a large Brazilian kindred of Portuguese extraction in which affected family members manifest a variety of seizure types, including hemiclonic, hemitonic, generalized tonic-clonic, simple partial (stereotyped episodes of epigastric pain), and complex partial seizures consistent with temporal lobe epilepsy. The syndrome is benign, either requiring no treatment or responding to a single antiepileptic medication. Seizure onset is in the first or second decades of life, with seizures in individuals up to the age of 71 years and documented encephalogram changes up to the age of 30 years. A key feature of partial epilepsy with pericentral spikes is a characteristic encephalogram abnormality of spikes or sharp waves in the pericentral region (centroparietal, centrofrontal, or centrotemporal). This distinctive encephalogram abnormality of pericentral spikes unites these several seizure types into a discrete family epilepsy syndrome. As with other familial epilepsies, the inherited nature of this new syndrome may be overlooked because of the variability in penetrance and seizure types among affected family members.
Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Lucy
L
Kinton
Michael R
MR
Johnson
Shelagh J M
SJ
Smith
Fiona
F
Farrell
John
J
Stevens
James B
JB
Rance
Angelica M
AM
Claudino
John S
JS
Duncan
Mary B
MB
Davis
Nicholas W
NW
Wood
Josemir W A
JW
Sander
D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012640:Seizures / Q000503:physiopathology