Photosensitivity and CHD2 Variants
نویسندگان
چکیده
منابع مشابه
Photosensitivity and CHD2 Variants
Investigators from multinational institutions hypothesized that disruption of CHD2, which encodes chromodomain helicase DNA-binding protein 2, would be associated with common forms of photosensitive epilepsy or photosensitivity manifesting as a photoparoxysmal response alone.
متن کاملCHD2 variants are a risk factor for photosensitivity in epilepsy
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosen...
متن کاملEpilepsy and photosensitivity.
In a series of 2053 cases of epilepsy studied 3.9% were found to have some form of photosensitive epilepsy. The mean age of onset was 14.9 years for males, 11.8 years for females. In the age group of 6-10 years there was a definite male preponderance. In 48.2% cases the seizures were caused by watching television and in 7.4% they were precipitated by sunlight or electric lights. Primary general...
متن کاملKinetic Evaluation of Photosensitivity in Bi-Stable Variants of Chimeric Channelrhodopsins
Channelrhodopsin-1 and 2 (ChR1 and ChR2) form cation channels that are gated by light through an unknown mechanism. We tested the DC-gate hypothesis that C167 and D195 are involved in the stabilization of the cation-permeable state of ChRWR/C1C2 which consists of TM1-5 of ChR1 and TM6-7 of ChR2 and ChRFR which consists of TM1-2 of ChR1 and TM3-7 of ChR2. The cation permeable state of each ChRWR...
متن کاملDrug-induced Photosensitivity.
Ultraviolet radiation is considered the main environmental physical hazard to the skin. It is responsible for photoaging, sunburns, carcinogenesis, and photodermatoses, including drug-induced photosensitivity. Drug-induced photosensitivity is an abnormal skin reaction either to sunlight or to artificial light. Drugs may be a cause of photoallergic, phototoxic, and photoaggravated dermatitis. Th...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2015
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-29-9-1