PCDH19 Female Epilepsy
Overview
PCDH19 is a condition 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.
Symptoms
- seizures that come in clusters and last for days/weeks at a time
- first seizure at 3m-3years (average age at onset 9 m)
- first seizure usually accompanied with fever with subsequent seizures with no known trigger
- loss of hearing/loss of skills after seizure clusters
- ictal apnea
- seizure types: generalized tonic-clonic, tonic, clonic, complex partial, atypical absence, atonic drop, myoclonic
- austism spectrum or autistic features
- behavioral problems
- agression
- ADD/ADHD
- anxiety
- OCD or other compulsions
- intellectual disability
- sleep disturbances
- Hypotonia
- fine and gross motor defects
- language delay/non-verbal
- sensory integration issues
- dysautonomia
- delayed tooth erruption
Causes
Males with the mutation, who will be largely unaffected, will pass the mutation onto 100% of their daughters and none of their sons. Women with the mutation have a 50% chance of passing it to their daughters and will pass it to 50% of their sons. Recently, scientists have discovered some unaffected females and are studying to learn what is protecting them from the disorder.