Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?

Author:

de Haan Gerrit‐Jan1,Pinto Dalila2,Bertram Ed13,Trenité Dorothee G.A. Kasteleijn‐Nolst24,Koeleman Bobby P.C.2,Lindhout Dick2

Affiliation:

1. Epilepsy Institute of the Netherlands SEIN Heemstede The Netherlands

2. DBG‐Department of Medical Genetics University Medical Centre Utrecht The Netherlands

3. F.E. Dreifuss Comprehensive Epilepsy Program Department of Neurology University of Virginia Charlottesville USA

4. University Hospital La Sapienza II San'Andrea Rome Italy

Abstract

ABSTRACT 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.

Publisher

Wiley

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