Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?
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.
de Haan
Gerrit-Jan
GJ
Epilepsy Institute of the Netherlands SEIN, Heemstede, The Netherlands. gjdhaan@sein.nl
Pinto
Dalila
D
Bertram
Ed
E
Trenité
Dorothee G A Kasteleijn-Nolst
DG
Koeleman
Bobby P C
BP
Lindhout
Dick
D
D000328:Adult; D020195:Epilepsy, Reflex / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020412:Multifactorial Inheritance; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D010375:Pedigree; D010775:Photic Stimulation / Q000009:adverse effects*