Late-onset childhood occipital epilepsy (Gastaut type): a family study.
Late onset childhood occipital epilepsy-Gastaut type (LOCOE) is a rare idiopathic epilepsy syndrome with an uncertain long-term prognosis. Elementary visual hallucinations and interictal spike-and-wave complexes in the occipital areas represent the main electroclinical findings of the syndrome. The functional nature of LOCOE has been emphasized together with the presence of genetic predisposition in the affected patients. Here, we report on two families in which two patients, respectively, showed electroclinical features compatible with LOCOE. Although further studies are needed to validate our observations, the involvement of two generations in one of the families we studied may corroborate the previously formulated hypothesis of an autosomal dominant model of inheritance in LOCOE. Of course, the identification of larger families is propaedeutic to linkage analysis studies.
Grosso
Salvatore
S
Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena Santa Maria alle Scotte Hospital, Siena, Italy. grosso@unisi.it
Vivarelli
Rossella
R
Gobbi
Giuseppe
G
Di Bartolo
Rosanna
R
Berardi
Rosario
R
Balestri
Paolo
P
D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005071:Evoked Potentials / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006212:Hallucinations / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D010375:Pedigree; D014793:Visual Cortex / Q000503:physiopathology*