What type of protein is SCN2A?
Sodium channel protein type 2 subunit alpha.
What does SCN2A mean?
SCN2A is the name of a gene that codes for part of the sodium or salt channel. This is an electrically activated gate in the brain which allows sodium in and out of neurones [cells that conduct nerve impulses], affecting the excitability of the brain.
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.
Where is SCN2A located?
» SCN2A Explained Located on the long (q) arm of chromosome 2 at position 24.3 the SCN2A is sodium channel, voltage gated, type II alpha subunit. This gene has been identified to cause autism, epilepsy and other neurological issues like dystonia and dsyautonomia when there is a deletion or mutation of this gene.
What causes KCNQ2?
KCNQ2 is caused by a mutation on the KCNQ2 gene, located on chromosome 20. Chromosomes: Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual. Human body cells normally have 46 chromosomes in each cell.
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.
How is SCN2A diagnosed?
How are SCN2A mutations diagnosed? Diagnosis is made using genetic testing in patients with appropriate clinical features. MRI is often normal and EEG findings may vary.
Is SCN2A hereditary?
SCN2A mutations may be inherited from a parent or may occur for the first time in a child with an SCN2A related disorder (a de novo mutation). Treatment depends on symptoms and severity, but often includes antiepileptic drugs (AEDs).
What is SCN2A life expectancy?
Dravet syndrome is a rare, severe, and lifelong form of epilepsy (seizure disorder). Most people affected by this condition have a good life expectancy. The disease typically starts in the first year of life, and around 80-85% of the children survive into adulthood.
What chromosome is KCNQ2 on?
KCNQ2 is caused by a mutation on the KCNQ2 gene, located on chromosome 20. Chromosomes: Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual.
Is there a cure for KCNQ2?
There is currently no FDA approved treatment for KCNQ2. There are currently two drug programs in development, one of which is being tested in clinical (human) trials.
Is SLC6A1 inherited?
In some cases, the pathogenic SLC6A1 variant has been inherited from a parent who also has a history of seizures or epilepsy. A family history of epilepsy or developmental differences may suggest an inherited SLC6A1 variant in these families.