CATALOGO DEI PRODOTTI DELLA RICERCA
IRIS è la soluzione IT che facilita la raccolta e la gestione dei dati relativi alle attività e ai prodotti della ricerca. Fornisce a ricercatori, amministratori e valutatori gli strumenti per monitorare i risultati della ricerca, aumentarne la visibilità e allocare in modo efficace le risorse disponibili.
EnglishWe 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; bursts of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to he one described in Angelman syndrome (AS) in which a defect in GABA-A receptor function has been suggested. Moreover, the genes encoding the GABA-A 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.
| Titolo: | 4p- Syndrome: a chromosomal disorder associated with a particular EEG pattern. |
| Autori: | |
| Data di pubblicazione: | 1995 |
| Rivista: | |
| Abstract: | 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; bursts of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to he one described in Angelman syndrome (AS) in which a defect in GABA-A receptor function has been suggested. Moreover, the genes encoding the GABA-A 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. |
| Handle: | http://hdl.handle.net/11562/307603 |
| Appare nelle tipologie: | 01.01 Articolo in Rivista |
File in questo prodotto:
Copyright © 2021