Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

Lemke, Johannes R; Beck-Wödl, Stefanie; Zankl, Andreas; Riegel, Mariluce; Krämer, Günter; Dorn, Thomas (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure - European journal of epilepsy, 18(9), pp. 660-3. Oxford: Elsevier 10.1016/j.seizure.2009.07.008

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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.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Lemke, Johannes
ISSN:	1059-1311
Publisher:	Elsevier
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 15:12
Last Modified:	05 Dec 2022 14:22
Publisher DOI:	10.1016/j.seizure.2009.07.008
PubMed ID:	19695908
Web of Science ID:	000272116700012
URI:	https://boris.unibe.ch/id/eprint/31847 (FactScience: 196609)