Analysis of clinical characteristics of procadherin 19 gene mutation associated epilepsy

  Objective  To analyze the clinical features and prognosis of epilepsy caused by protocadherin 19 (PCDH19) gene mutation.

  Methods  The clinical data of two children with epilepsy caused by PCDH19 gene mutation was retrospectively analyzed, and their clinical characteristics were analyzed in according to relevant literatures and clinical data in combination.

  Results  Both of the two children were female, with retarded language development and no fever. Antiepileptic drugs were effective of two children. Gene sequencing indicated that PCDH19 gene was a novel mutation in two children.

  Conclusion  PCDH19 gene mutations can be inherited from parents or novel mutations, and the onset of epilepsy caused by PCDH19 is usually in infancy, mostly in female. After puberty, the frequency of seizures decreas in patients, but no significant improvement in their intelligence is found.