JLE

Epileptic Disorders

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Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy? Volume 8, issue 1, March 2006

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Authors
Epilepsy Institute of the Netherlands SEIN, Heemstede, DBG-Department of Medical Genetics, University Medical Centre, Utrecht, The Netherlands, F.E. Dreifuss Comprehensive Epilepsy Program, Department of Neurology, University of Virginia, Charlottesville, USA, University Hospital La Sapienza II, San’Andrea, Rome, Italy

The interplay of multiple genetic factors, as opposed to monogenic inheritance, is suspected to play a role in many idiopathic generalized epilepsies. This leads to a digenic or oligogenic inheritance model, which although rather simplified, may explain at least some of the clinical observations. Here we describe a family in which the clinical phenotype in the offspring can be explained by a combination of photosensitivity and epilepsy traits that segregated independently of each other. This case history demonstrates the need to evaluate family histories in more detail in order to uncover potential clinical markers for genetic factors in complex epilepsies.