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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 - PCDH19 Female Epilepsy

  • 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 - PCDH19 Female Epilepsy

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.

Prevention - PCDH19 Female Epilepsy

Not supplied.

Diagnosis - PCDH19 Female Epilepsy

Not supplied.

Prognosis - PCDH19 Female Epilepsy

Not supplied.

Treatment - PCDH19 Female Epilepsy

Not supplied.

Resources - PCDH19 Female Epilepsy

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