Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?
نویسندگان
چکیده
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.
منابع مشابه
Response to “Optical coherence tomography parameters in patients with photosensitive juvenile myoclonic epilepsy”
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Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.
We read with great interest the article entitled “The unexpected role of copy number variations in juvenile myoclonic epilepsy” by Helbig I. et al. [1] published in the supplemental special issue “Juvenile myoclonic epilepsy: What is it really?” [July 2013] of this journal. We thought that it would be appropriate to report the 22q11.2 chromosome as an additional proposed critical region for juv...
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Photosensitivity is reported to occur in approximately 40% of patients with juvenile myoclonic epilepsy. Our experience suggests that the prevalence is higher and may be related to both the duration of intermittent photic stimulation and also the age at which the procedure is undertaken. A two-year retrospective review of all EEGs was undertaken on all children attending a paediatric EEG depart...
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عنوان ژورنال:
- Epileptic disorders : international epilepsy journal with videotape
دوره 8 1 شماره
صفحات -
تاریخ انتشار 2006