How common is KCNQ2?
KCNQ2 is rare, representing around 10% of patients with epileptic encephalopathy with onset in the first three months of life; however, the incidence of KCNQ2 is approximately 2.8/100,000 live births (or over 3,000 new cases annually worldwide), which is roughly half the number of births of Dravet Syndrome, the most …
Is there a cure for KCNQ2?
There is currently no FDA approved treatment for KCNQ2.
What causes epileptic encephalopathy?
The most common causes of epileptic encephalopathy in infancy are structural abnormalities, either congenital (such as malformations of cortical development) or acquired (such as hypoxic-ischemic insults).
What is KCNQ2 encephalopathy?
KCNQ2-Developmental and Epileptic Encephalopathy Encephalopathy refers to a disease that affects the functioning of the brain. Children with KCNQ2-developmental and epileptic encephalopathy typically experience multiple daily seizures that begin within the first week of life.
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 epileptic encephalopathy fatal?
This rare disease has a poor prognosis. Usually described as a progressive and untreatable disease, EIEE is also associated with severe physical and cognitive disabilities and unexplained death [3]. Among several causes of death in epilepsy, sudden unexplained death in epilepsy (SUDEP) is rising.
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.
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.
How common is ohtahara syndrome?
Epidemiology. Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Approximately 100 cases total have been reported but this may be an underestimate. since OS neonates with early death may escape clinico-EEG diagnosis. Male cases slightly predominate those of females.
What are the signs and symptoms of KCNQ2?
Children with KCNQ2 -developmental and epileptic encephalopathy typically experience multiple daily seizures that begin within the first week of life. These seizures are often tonic (stiffening) seizures and may be associated with jerking movements and changes in breathing or heart rate.
What are the symptoms of kcnq2-related epilepsy?
In all cases of KCNQ2 -related epilepsy, seizures begin shortly after birth and the EEG is initially abnormal. The constellation of symptoms is often consistent with “Ohtahara syndrome” which is a severe neonatal epilepsy with many different potential causes.
What is the prognosis of KCNQ2 encephalopathy in children with epilepsy?
In most children with KCNQ2 -developmental and epileptic encephalopathy, seizures disappear in childhood. However, cognitive impairment and other neurological complications persist. Self-limited neonatal epilepsy (formerly called benign familial neonatal seizures) is less severe than KCNQ2 -developmental and epileptic encephalopathy.
What is the pathophysiology of KCNQ2 syndrome?
Mutations in the KCNQ2 gene cause a spectrum of disease that ranges from benign seizures in infancy to epileptic encephalopathy likely based on the degree of dysfunction in this channel.
