How rare is STXBP1?

How rare is STXBP1?

Affected Populations STXBP1-related disorders are rare, affecting males and females equally. Approximately 282 individuals have been described in the literature, and there are an estimated 750 cases known worldwide. Estimated incidence rate is between 3.3 – 3.8 per 100,000 births (Lopez-Rivera et al, 2020).

What causes STXBP1?

As its name indicates, STXBP1 encephalopathy is caused by mutations in the STXBP1 gene. This gene provides instructions for making syntaxin-binding protein 1. In nerve cells (neurons ), this protein helps regulate the release of chemical messengers called neurotransmitters from compartments known as synaptic vesicles.

Can seizures cause encephalopathy?

Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Often these patients have a history of epilepsy, in which case accurate diagnosis is straightforward.

What is epileptic encephalopathy?

Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized.

Is encephalopathy the same as epilepsy?

Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills.

What does West Syndrome look like?

West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability.

What is sunflower syndrome?

Sunflower Syndrome (also referred to as Self-induced Photosensitive Epilepsy) is a rare epileptic disorder characterized by a distinctive seizure that manifests itself in a highly stereotyped physical behavior.

Can encephalopathy be cured?

Many forms of encephalopathy are reversible if the cause can be identified and treated. All types can be fatal if severe enough. Some types are always fatal.

What is encephalopathy?

Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure.

What is early infantile epileptic encephalopathy 4 (eiee4)?

Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported.

What are the types of encephalopathy that are irreversible?

Types of encephalopathy that are irreversible include: Chronic traumatic encephalopathy . This condition is caused by repeated head injuries , which damage the brain.

What causes developmental and epileptic encephalopathy 4 (DEE4)?

A number sign (#) is used with this entry because of evidence that developmental and epileptic encephalopathy-4 (DEE4) is caused by heterozygous mutation in the STXBP1 gene ( 602926) on chromosome 9q34.

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