4P(-) SYNDROME - A CHROMOSOMAL DISORDER ASSOCIATED WITH A PARTICULAR EEG PATTERN

We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotype d EEG and clinical picture characterized by generalized. or unilateral myoclonic seizures followed later by brief atypical absences. Electro graphically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed sp ike be coming unusual spike-wave complexes, often elicited by eye clos ure; bursts of diffuse spikes and waves; and frequent jerks. This elec troclinical pattern is very similar to the one described in Angelman s yndrome (AS) in which a defect in GABA(A) receptor function has been s uggested. Moreover, the genes encoding the GABA(A) receptor subunit ha ve been mapped to the p12-p13 bands of chromosome 4. Even though the d eletion in these cases does not encompass the 4p12-p13 region, we sugg est that the electroclinical picture common to WHS and AS might repres ent a characteristic type of epilepsy linked to a common genetic abnor mality.