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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Lennox-Gastaut syndrome can have many different causes. The disorder likely has a genetic component, although the specific genetic factors are not well understood.

Most cases of Lennox-Gastaut syndrome develop from an existing neurological abnormality. These cases maybe be caused by brain injuries that occur before or during birth, problems with blood flow in the developing brain, brain infections, or other disorders affecting the nervous system. The condition can also arise from brain malformations such as forms of cortical dysplasia, which are abnormalities in the outer surface of the brain (cerebral cortex). Many people with Lennox-Gastaut syndrome have a history of epilepsy beginning in infancy (infantile spasms) or a related condition called West syndrome before developing the features of Lennox-Gastaut syndrome. It is not clear why these neurological abnormalities evolve into Lennox-Gastaut syndrome.

In addition, variants (also called mutations) in several genes have been associated with Lennox-Gastaut syndrome, each in a small number of affected individuals. These genes are involved in the function of nerve cells in the brain, but it is unclear how changes in them contribute to the development of Lennox-Gastaut syndrome. The condition can also occur as part of a genetic disorder, such as tuberous sclerosis complex.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Lennox-Gastaut syndrome?"},{"bodyHtml":"

In people with Lennox-Gastaut syndrome, epilepsy begins in early childhood, usually between ages 3 and 5. The most common seizure type is tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures typically occur during sleep; they may also occur during wakefulness. Also common are atonic seizures, which are caused by a sudden loss of muscle tone. Tonic and atonic seizures can cause sudden falls that can result in serious or life-threatening injuries. Additionally, many affected individuals have atypical absence seizures, which cause a very brief partial or complete loss of consciousness. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. Seizures associated with Lennox-Gastaut syndrome often do not respond well to therapy with anti-epileptic medications.

Although each seizure episode associated with Lennox-Gastaut syndrome is usually brief, more than two-thirds of affected individuals experience prolonged periods of seizure activity (known as status epilepticus) or episodes of many seizures that occur in a cluster.

About one-third of people with Lennox-Gastaut syndrome have normal intellectual development before seizures begin. The remainder have intellectual disability or learning problems even before seizures arise. Intellectual problems may worsen over time, particularly if seizures are very frequent or severe. Some affected children develop additional neurological abnormalities and behavioral problems. Many are also slow to develop motor skills such as sitting and crawling. As a result of their seizures and intellectual disability, most people with Lennox-Gastaut syndrome require help with daily activities. However, a small percentage of affected adults can live independently.

People with Lennox-Gastaut syndrome have a higher risk of death than their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures, pneumonia resulting from inhaling saliva (aspiration pneumonia) during a seizure, and injuries from falls. In addition, individuals with Lennox-Gastaut syndrome are at risk of sudden unexpected death in epilepsy (SUDEP), which describes sudden death with no known cause in someone with epilepsy; it is not the direct result of a seizure.

Source: MedlinePlus Genetics

CHD2 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. The most common are myoclonic seizures, which involve involuntary muscle twitches. Other seizure types include sudden episodes of weak muscle tone (atonic seizures); partial or complete loss of consciousness (absence seizures); seizures brought on by high body temperature (febrile seizure); or tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. Some people with CHD2 myoclonic encephalopathy have photosensitive epilepsy, in which seizures are triggered by flashing lights. Some people with CHD2 myoclonic encephalopathy experience a type of seizure called atonic-myoclonic-absence seizure, which begins with a drop of the head, followed by loss of consciousness, then rigid movements of the arms. Epilepsy can worsen, causing prolonged episodes of seizure activity that last several minutes, known as status epilepticus. The seizures associated with CHD2 myoclonic encephalopathy are called refractory because they usually do not respond to therapy with anti-epileptic medications.

Other signs and symptoms of CHD2 myoclonic encephalopathy include intellectual disability that ranges from mild to severe and delayed development of speech. Rarely, individuals can have a loss of acquired skills (developmental regression) following the onset of epilepsy. Some people with CHD2 myoclonic encephalopathy have autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. In some instances, areas with a loss of brain tissue (atrophy) have been found with medical imaging.

Causes

As its name suggests, CHD2 myoclonic encephalopathy is caused by mutations in the CHD2 gene. This gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. The role of chromodomain DNA helicase protein 2 in the brain is unknown. Researchers suspect that the protein may be involved in regulating the development and functioning of nerve cells.

CHD2 gene mutations either prevent the production of any chromodomain DNA helicase protein 2 or lead to the production of a nonfunctional version of the protein. As a result, chromatin remodeling and gene expression normally regulated by chromodomain DNA helicase protein 2 are disrupted. It is unclear why CHD2 gene mutations seem to only affect nerve cells in the brain or how they lead to the signs and symptoms of CHD2 myoclonic encephalopathy.

MedlinePlus Genetics: Causes

MedlinePlus: CHD2 myoclonic encephalopathy

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