Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?
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.
Lemke
Johannes R
JR
Swiss Epilepsy Center Zurich, Bleulerstrasse 60, CH-8008 Zürich, Switzerland.
Beck-Wödl
Stefanie
S
Zankl
Andreas
A
Riegel
Mariluce
M
Krämer
Günter
G
Dorn
Thomas
T
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