How many people have CHD2?
As of 2019, studies found around 32 people who have CHD2-related syndrome. This section includes a summary of information from major published articles. It highlights how many people have different symptoms.
Which type of epilepsy syndrome is linked to photosensitivity?
This condition is known as photosensitive epilepsy. Photosensitive epilepsy is more common in children and adolescents, especially those with generalized epilepsy and with certain epilepsy syndromes, such as juvenile myoclonic epilepsy and epilepsy with eyelid myoclonia (Jeavon’s syndrome).
What is CHD2 mutation?
At least 30 mutations in the CHD2 gene have been found to cause CHD2 myoclonic encephalopathy, a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability beginning in childhood. About half of these mutations delete pieces of DNA from the CHD2 gene.
What is a myoclonic encephalopathy?
CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types.
How do you get rid of photosensitive epilepsy?
There is no cure for photosensitive epilepsy. However, anti-epileptic medicines may reduce the frequency of seizures. People with photosensitive epilepsy can also reduce the likelihood of having a seizure by avoiding stimuli that could trigger a seizure.
How common is photosensitive epilepsy?
How common is photosensitive epilepsy? Around 1 in 100 people has epilepsy and of these people, around 3% have photosensitive epilepsy. This is when seizures are triggered by certain rates of flashing lights or contrasting light and dark patterns.
What is SYNGAP1?
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking.
Is there over representation of CHD2 variants in epilepsy?
Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences ( P = 3·50 × 10 −4 ). CHD2 variation was not over-represented in photoparoxysmal response without seizures.
Are there any CHD2 variants associated with photosensitivity?
Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability. Photosensitivity in epilepsy is common and has high heritability, but its genetic basis remains uncertain.
Which is the gene responsible for generalized photosensitive epilepsy?
CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome CHD1 and CHD2 act as positive regulators of HIV-1 gene expression. The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy with marked photosensitivity.
What is the role of CHD2 in cancer?
CHD2 is a cancer driver and has a role as chromatin remodeler in chronic lymphocytic leukemia. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome CHD1 and CHD2 act as positive regulators of HIV-1 gene expression.