Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?

被引:0
作者
de Haan, GJ
Pinto, D
Bertram, E
Trenité, DGAKN
Koeleman, BPC
Lindhout, D
机构
[1] SEIN, Epilepsy Inst Netherlands, Heemstede, Netherlands
[2] Univ Utrecht, Med Ctr, Dept Med Genet, DBG, Utrecht, Netherlands
[3] Univ Virginia, Dept Neurol, FE Dreifuss Comprehens Epilepsy Program, Charlottesville, VA USA
[4] Univ Hosp La Sapienza 2, Rome, Italy
关键词
photosensitive epilepsy; juvenile myoclonic epilepsy; genetics; oligogenic; biparental inheritance;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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页码:32 / 36
页数:5
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