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 KCNQ2 mutation?
A mutation in the KCNQ2 gene has been identified in most people with benign familial neonatal seizures (BFNS), a condition characterized by recurrent seizures (epilepsy) in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months.
Is KCNQ2 a rare disease?
Ohtahara syndrome (OS), sometimes referred to as early infantile epileptic encephalopathy (EIEE) is a rare type of epilepsy that typically becomes apparent during the first 1-3 months of life.
How is KCNQ2 inherited?
KCNQ2 pathogenic variants that result in symptoms on the mild end of the spectrum, specifically benign familial neonatal epilepsy (BFNE), are typically inherited in an autosomal dominant fashion, meaning that one or the other parent has the same variant.
Who are people with mutations in KCNQ2 gene?
There are two main categories of patients that carry mutations in the gene KCNQ2, namely 1) patients with benign (familial) neonatal epilepsy ( BFNE ), and 2) patients with neonatal epileptic encephalopathy, also called KCNQ2 encephalopathy.
Can a de novo mutation in KCNQ2 cause seizures?
More recently, de novo mutations in KCNQ2 have been described in children with a much more severe phenotype. As in BFNE, neonates present with early onset, often tonic, seizures, but they are much more difficult to control, and a delay in development soon becomes apparent.
When does the kcnq2-nee gene go away?
KCNQ2-NEE is characterized by epilepsy and profound intellectual disability and seizures that begin in the first weeks of life and typically show little response to treatment. They usually go away in a few months to a few years but can return later in childhood. [2] [1] These disorders are caused by mutations in the KCNQ2 gene.
Is the KCNQ2 gene a voltage gated potassium channel?
KCNQ2. This is the Epilepsiome page on KCNQ2, an ion channel gene that encodes a subunit of a voltage-gated potassium channel. Known for years as a gene for a familial and self-limiting neonatal epilepsy syndrome, mutations are now also shown to be a frequent cause of neonatal epileptic encephalopathy.
