We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12-p13 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12-p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.
4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern / V. Sgrò, E. Riva, M. P. Canevini, V. Colamaria, A. Rottoli, L. Minotti, R. Canger, B. Dalla Bernardina. - In: EPILEPSIA. - ISSN 0013-9580. - 36:12(1995 Dec), pp. 1206-14-1214.
|Titolo:||4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern|
|Parole Chiave:||4p Syndrome; Angelman syndrome-DNA damage; Children; Electroencephalography; Wolf-Hirschhorn syndrome|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
Settore MED/39 - Neuropsichiatria Infantile
|Data di pubblicazione:||dic-1995|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1111/j.1528-1157.1995.tb01064.x|
|Appare nelle tipologie:||01 - Articolo su periodico|