KCNQ2

Summary

KCNQ2 (potassium voltage-gated channel subfamily member 2) belongs to a family of genes that provides instructions to make potassium channels that help generate and transmit electrical impulses in the brain.
Changes in the KCNQ2 gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
Abnormal changes to the KCNQ2 gene can cause intellectual disability and seizures that usually begin in the first few weeks of life.
Broadly, there are two types of epilepsy caused by changes in KCNQ2:
- Self-limited neonatal epilepsy; seizures that usually begin in the first week of life spontaneously stop within the first year of life without impacting development. Some children may start having seizures again in childhood or adulthood.
- Neonatal-onset developmental and epileptic encephalopathy; seizures that begin in the first weeks of life usually stop by early childhood, developmental delay, speech and motor impacts can be severe and remain even when seizures stop. Seizures may then start again later in life.
Diagnosis for KCNQ2 epilepsy will require genetic testing.

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