Two specific areas in chromosome 7 and chromosome 16 have been associated with photosensitivity, an epilepsy-related trait, by a team of European scientists in the January issue of Human Molecular Genetics. Photosensitivity or photoparoxysmal response (PPR) is associated with the most common epilepsy of genetic origin –Idiopathic Generalised Epilepsy (IGE) - and comprehension of the genetics behind it is important to a better understanding of IGE and epilepsy in general.
Epilepsies are a group of brain disorders characterised by recurrent seizures. The disease results from the fact that the neurons (brain cells) of epileptic patients seem to be incapable of properly conduct the nervous signal. This inability leads to excessive and disordered electric activity in the patients’ brain, which can lead to seizures. Seizures trigger involuntary muscle movements and can have a multitude of effects such as altered sensations, changes in awareness, behaviour, movement and/or body function.
Epilepsy affects about 2% of the world population and can create problems in the simplest of everyday activities such as driving, attending a job, school or even staying home alone what has important economic implications for society. Additionally, due to the unpredictability of the seizures that creates a life of constant fear for patients, there is also a extremely high social toll for both patients and their families.
Catarina Amorim | alfa
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