title: Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?
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.
authors.affiliation: Swiss Epilepsy Center Zurich, Bleulerstrasse 60, CH-8008 Zürich, Switzerland.
authors.forename: Johannes R
authors.initials: JR
authors.lastname: Lemke
authors.forename: Stefanie
authors.initials: S
authors.lastname: Beck-Wödl
authors.forename: Andreas
authors.initials: A
authors.lastname: Zankl
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.forename: Günter
authors.initials: G
authors.lastname: Krämer
authors.forename: Thomas
authors.initials: T
authors.lastname: Dorn
mesh_terms: D000293:Adolescent; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D004569:Electroencephalography; D020195:Epilepsy, Reflex / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000150:complications; D006801:Humans; D020190:Myoclonic Epilepsy, Juvenile / Q000150:complications* / Q000235:genetics / Q000503:physiopathology