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GLUT1 Deficiency Syndrome is a genetic disorder that affects the brains metabolism by inhibiting the flow of glucose from the blood into the brain. GLUT1 is the protein that’s responsible for ensuring that the brain receives adequate glucose, which is the main source of fuel for the brain. A lack of glucose can lead to…

Category: Syndromes

This rare form of epilepsy is slightly more prevalent in males than in females. Epilepsy with myoclonic absences is a syndrome that has no known cause, however, it’s believed that it is likely genetic as 25 out of 100 children with this particular syndrome also have a relative who also has epilepsy. Myoclonic absences are…

Category: Syndromes

ESESS is a particularly rare epilepsy syndrome that develops in mid-childhood, around 4-5 years and normally affects children who already have epilepsy. It accounts for just 0.2% - 0.5% of childhood epilepsy syndromes and it’s slightly more common in males than females (62%). The cause of this syndrome is still currently unknown. What are the…

Category: Syndromes

This particular syndrome will usually begin very early in the newborn period, normally before 2 to 3 months of age. The underlying cause of early myoclonic encephalopathy is often a metabolic disorder known as nonketotic hyperglycinemia, however, it can also be caused by brain malformations and neurogenetic disorders.   Symptoms Seizures can vary with this…

Category: Syndromes

Startle epilepsy (or startle-induced seizures) is a type of reflex epilepsy whereby a seizure is caused by a sudden and unexpected stimulus. This could be a wide variety of things, and it often varies from person to person. Some people with epilepsy may be particularly sensitive to one type of stimulus. Startle epilepsy is very…

Category: Syndromes

Dravet syndrome, also known as severe myoclonic epilepsy in infancy (SME), is a very rare childhood epilepsy syndrome. It affects as few as 1 in 500 children with epilepsy and most commonly starts with seizures that are very similar in character to that of febrile convulsions. Although this syndrome may develop from as young as…

Category: Syndromes