Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?
Publisher DOI
PubMed ID
19695908
Abstract
We report on an adolescent female with Velocardiofacial syndrome (del(22)(q11.2)) and an epilepsy phenotype resembling juvenile myoclonic epilepsy (JME). Clinically, the patient has characteristic signs of both disorders. JME has been linked to several chromosomes, but has not been related to 22q11.2 and is rarely observed in other genetic syndromes. We discuss possible explanations for a relationship between the chromosomal aberration and epilepsy as well as the importance of precise delineation of both epilepsy phenotypes and genetic defects in chromosomal disorders.
Date Issued
2009
Publication Type
Article
Language(s)
en
Author(s)
Beck-Wödl, Stefanie | |
Zankl, Andreas | |
Riegel, Mariluce | |
Krämer, Günter | |
Dorn, Thomas |
Additional Credits
Journal
Seizure - European journal of epilepsy
Publisher
Elsevier
ISSN
1059-1311
Access(Rights)
metadata.only