What does STXBP1 stand for?
Syntaxin-binding protein 1 is also thought to play a role in the positioning and growth of neurons during brain development. STXBP1 gene mutations reduce the amount of functional protein produced from the gene, which impairs the release of neurotransmitters.
What causes STXBP1?
Causes. STXBP1-related disorders are caused by changes, or pathogenic variants in the STXBP1 gene, which is located on chromosome 9. These are autosomal dominant disorders, meaning that the symptoms manifest when one of two copies (alleles) of the STXBP1 gene are affected by a pathogenic change.
What is STXBP1 gene?
The STXBP1 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.
What is epileptic encephalopathy?
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.
Can encephalopathy cause seizures?
Encephalopathy can present a very broad spectrum of symptoms that range from mild, such as some memory loss or subtle personality changes, to severe, such as dementia, seizures, coma, or death.
What is West syndrome?
West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability.
How is epileptic encephalopathy diagnosed?
The EEG often evolves to atypical hypsarrhythmia which is transient or multifocal spike and sharp waves 3-4 months after the onset of the disease. The diagnosis of these epileptic encephalopathies begins with an EEG which should include both the sleep and wake states.
How common is epileptic encephalopathy?
Prevalence is not known, but incidence is reported to be 0.5%. Equal male-female incidence is defined in early studies; extended studies indicate higher incidence in males. Generalized tonic-clonic seizures, atypical absence, myoclonic and atonic seizures may be observed.
Is epileptic encephalopathy curable?
Hormonal and immune therapies are at the forefront of treatment in many cases, with traditional antiepileptic drugs and surgery (when an identifiable lesion is present) playing a limited role. However, gold standard evidence for treatment of epileptic encephalopathies remains limited.
What is Lennox Gastaut Syndrome?
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.
What is Rasmussen syndrome?
Rasmussen’s encephalitis (RE) is a very rare, chronic inflammatory neurological disease that usually affects only one hemisphere (half) of the brain. It most often occurs in children under the age of 10 but can also affect adolescents and adults.
What is the prevalence of STXBP1 encephalopathy with epilepsy?
The prevalence of STXBP1 encephalopathy with epilepsy is unknown. More than 280 individuals with this condition have been reported in the medical literature. As its name indicates, STXBP1 encephalopathy is caused by mutations in the STXBP1 gene.
What are the signs and symptoms of stxbp1encephalopathy with epilepsy?
Clinical characteristics: STXBP1encephalopathy with epilepsy is characterized by early-onset encephalopathy with epilepsy (i.e., moderate to severe intellectual disability, refractory seizures, and ongoing epileptiform activity). The median age of onset of seizures is six weeks (range 1 day to 13 years).
What are the different types of seizures in stxbpi?
A broad spectrum of seizure types has been reported, including infantile or epileptic spasms, focal-onset seizures, and tonic seizures; up to 40% of children with STXBPI -related disorders develop infantile spasms.
What is the pathophysiology of STXBP1-related visual impairment?
Cortical visual impairment is seen in some children with STXBP1 -related disorders. STXBP1 -related disorders are caused by changes, or pathogenic variants in the STXBP1 gene, which is located on chromosome 9.