What causes ohtahara syndrome?
Ohtahara syndrome is classically caused by very abnormal brain structure that may be due to damage or abnormal development. It also can be due to metabolic disorders or genetic epilepsy syndromes, although the cause or causes for many cases can’t be determined.
How common is STXBP1?
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 is SLC6A1 disease?
SLC6A1 epileptic encephalopathy is an autosomal dominant genetic disorder characterized by the loss-of-function of one copy of the human SLC6A1 gene. Clinical manifestation of SLC6A1 epileptic encephalopathy is characterized by early onset seizures (mean onset 3.7 years) and mild to severe intellectual disability.
Is Ohtahara syndrome fatal?
Some children with Ohtahara syndrome may die within the first 2 years of life. Those who survive are typically left with severe physical and cognitive disabilities.
Is Ohtahara syndrome curable?
There are several treatment options used to manage Ohtahara syndrome, but there is not a cure. These treatments can help reduce the frequency and severity of the seizures, but they are not effective in managing developmental problems.
What is KCNH2 gene?
The KCNH2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell’s ability to generate and transmit electrical signals.
How long do people with STXBP1 live?
The mean age was 8.3 years, the standard deviation 4.7 years and the median 7 years. One of the main features in individuals with STXBP1 syndrome and that is frequently the first manifestation indicative of a disorder is the development of seizures.
What is SCN2A mutation?
All children with SCN2A-related disorders have a pathogenic variant (“mutation”) in the gene SCN2A, which encodes the instructions to make a protein in the brain called a sodium channel. Pathogenic variants that affect the SCN2A sodium channel impair the flow of sodium ions in the brain.
What are the effects of mutations in the STXBP1 gene?
Pathogenic variants (“mutations”) in the STXBP1 gene cause a spectrum of neurodevelopmental disorders that can include early-onset epilepsy and developmental delay, sometimes accompanied by autism spectrum disorder, increased or decreased muscle tone, or movement disorders.
When do you know you have a stxbp1-related disorder?
When a disorder is traced back to a pathogenic variant in the STXBP1 gene, it is called an STXBP1 -related disorder. In many children with STXBP1 -related disorders, seizures are the first sign of the condition. In most individuals with STXBP1 -related disorders, seizures occur in the first year of life.
How are stxbp1-related disorders treated at Chop?
Cognitive and developmental delays associated with STXBP1 -related disorders are treated with physical, occupational, speech and socialization therapy, and with the support of early intervention services. Care may be provided by a developmental pediatrician. Why choose CHOP for treatment of STXBP1 -related disorders?
What kind of seizures do children with STXBP1 have?
Children with STXBP1 -related disorders may develop different types of seizures. Common seizure types may include: Clonic seizures (jerking movements on one part of the body) Focal impaired awareness seizures (seizures where children stop their usual behavior and become unaware)