Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominately females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally …
What is PCDH 19 Epilepsy?
PCDH19-epilepsy is a genetic form of epilepsy characterized by treatment-resistant epilepsy that begins in the first year of life, often accompanied by differences in development and features of autism spectrum disorder. PCDH19-epilepsy mostly affects girls, although boys can have this condition as well.
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 gene causes seizures?
Researchers believe that the overstimulation of certain neurons in the brain triggers the abnormal brain activity associated with seizures. Mutations in the EFHC1 gene have been associated with juvenile myoclonic epilepsy in a small number of people.
How many people have PCDH19?
Who is affected? About 1 in 10 girls that begin having seizures before the age of 5 may have PCDH19 Epilepsy. The features of PCDH19 can overlap or look similar to the features in Dravet Syndrome. It is estimated that there are between 15,000 and 30,000 people with PCDH19 Epilepsy in the United States.
What is CDKL5 disorder?
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development. Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of life, and can appear as early as the first week after birth.
How common is PCDH19 epilepsy?
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.
How is KCNQ2 inherited?
KCNQ2-related disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with KCNQ2-BFNE have an affected parent; however, a proband may have KCNQ2-BFNE as the result of a de novo pathogenic variant. Almost all individuals with KCNQ2-NEE have a de novo pathogenic variant.
Why do seizures start?
Anything that interrupts the normal connections between nerve cells in the brain can cause a seizure. This includes a high fever, high or low blood sugar, alcohol or drug withdrawal, or a brain concussion. But when a person has 2 or more seizures with no known cause, this is diagnosed as epilepsy.
Can CDKL5 be cured?
Absolutely! The IFCR is working hard to find treatments and a cure for CDKL5. We continue to fund a variety of scientific research projects and our Centers of Excellence provide vital clinical research that is essential for the success of CDKL5 Deficiency trials, including genetic therapies.
What is PCDH19 Epilepsy?
PCDH19 Epilepsy is a disease with a wide spectrum of severity in seizures, cognitive delays and other symptoms, which are all caused by a mutation of the PCDH19 gene on the x chromosome.
How does PCDH19 affect the body?
PCDH19 Epilepsy gene may affect just one person in a family through an accident in how the cells develop, or it can be inherited. Males who carry the gene change or mutation on their only X chromosome are typically not affected. In contrast, 90% of women who have the PCDH19 gene mutation on one of their two X chromosomes have the symptoms.
The PCDH19- encoded protein is a protocadherin, a neuronal adhesion protein that plays an important role in early development of the central nervous system. Neurons grow and connect through cues on the surface, and cell-cell adhesion proteins are critically involved in this process.
What tests are used to diagnose PCDH19?
Genetic testing on a blood sample can confirm the diagnosis of PCDH19 Epilepsy. Electroencephalography (EEG) testing can be normal or in some cases show slowing on both sides of the brain and rare epileptiform discharges on testing when a person is not having a seizure.
