What is SYNGAP1 syndrome?

What is SYNGAP1 syndrome?

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.

How many people in the world have SYNGAP1?

New SYNGAP1 patients are identified each week. We have now more than 800 SynGAP patients identified worldwide.

How is SYNGAP1 diagnosed?

Genetic testing is required to diagnose a SYNGAP1-related disorder. Additional tests may also be done, including: Electroencephalogram (EEG) to look for evidence of abnormal brain activity and seizures. Magnetic resonance imaging (MRI) to look for changes in brain structure.

What is dravet?

Definition. Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe.

What is the rarest seizure?

What is Dravet syndrome? Dravet syndrome is a rare, genetic epileptic encephalopathy that gives rise to seizures that don’t respond well to seizure medications. It begins in the first year of life in an otherwise healthy infant.

What is SCN1A mutation?

SCN1A mutations are the main cause of both Dravet syndrome (DS, MIM 607208) and intractable childhood epilepsy with generalized tonic-clonic seizures, also known as severe idiopathic generalized epilepsy of infancy (Mulley et al., 2005; Fujiwara, 2006).

What is CACNA1A mutation?

All children with CACNA1A-related disorder have a pathogenic variant (“mutation”) in the gene CACNA1A, which encodes the instructions to make a protein in the brain called a calcium channel. Pathogenic variants that affect the CACNA1A calcium channel impair the flow of calcium ions in the brain.

Is Dravet syndrome fatal?

Mortality is elevated in Dravet syndrome above that found in the general population of epilepsy patients. Estimates of mortality range from 15% to 20% by adulthood. Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death and usually occurs during sleep.

What is the most serious type of epilepsy?

Overview. A grand mal seizure causes a loss of consciousness and violent muscle contractions. It’s the type of seizure most people picture when they think about seizures. A grand mal seizure — also known as a generalized tonic-clonic seizure — is caused by abnormal electrical activity throughout the brain.

What is the most severe form of epilepsy?

Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy that typically becomes apparent during infancy or early childhood. Affected children experience several different types of seizures most commonly atonic, tonic and atypical absence seizures.

How long does someone with Dravet syndrome live?

The average life expectancy of people with Dravet syndrome is not clear, but estimates suggest that 10–20% of individuals with Dravet syndrome do not survive beyond the age of 10. Sudden unexpected death in epilepsy (SUDEP) is the most common cause.