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.
Epilepsy Institute of the Netherlands SEIN, Heemstede, The Netherlands. gjdhaan@sein.nl
Gerrit-Jan
GJ
de Haan
Dalila
D
Pinto
Ed
E
Bertram
Dorothee G A Kasteleijn-Nolst
DG
Trenité
Bobby P C
BP
Koeleman
Dick
D
Lindhout
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*