PCDH19 female epilepsy, PCDH19 FLE, Early infantile epileptic encephalopathy 9 (EIEE9)
Type of disease: Rare conditions
PCDH19 female epilepsy (PCDH19 FLE) is a genetic seizure disorder that occurs almost exclusively in females and is caused by a mutation (change) in the PCDH19 gene. There is a range of symptoms that can occur with PCDH19 female epilepsy; the most common is seizures. Typically, the seizures will begin between 3 months and 3 years of age and occur in clusters that can last days or even weeks. These seizures, which do not respond well to medications, can be triggered by a fever and may be followed by a loss of hearing or skills. Up to 60% of girls with this condition may also have autistic behaviors as well as attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD), or obsessive-compulsive disorder (OCD). In addition, approximately 70% of individuals with PCDH19 FLE experience developmental delays. Girls with this condition are often said to have energetic, independent, fearless, and stubborn personalities.
PCDH19 FLE is diagnosed with genetic testing of the PCDH19 gene, which is located on the X chromosome. For reasons that are not fully understood, males with a mutation in this gene do not have symptoms of PCDH19 FLE. Both unaffected males and affected females who have a disease causing mutation in their PCDH19 gene have a 50% risk of passing on the mutation to their children. All females who inherit a mutation in the PCDH19 gene are at risk of having symptoms of PCDH19 FLE. Although there is currently no cure for PCDH19 female epilepsy, there are various resources to help manage the condition and treat the symptoms. Doctors seek support from various therapists and community services to provide care for patients and families affected by PCDH19 FLE. Support groups are also a good resource for additional support and information.