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Protocadherin 19 mutations in girls with infantile-onset epilepsy

C Marini1, D Mei, L Parmeggiani

  • 1Child Neurology Unit, Children's Hospital A. Meyer, Viale Pieraccini 24, 50139 Firenze, Italy.

Neurology
|August 18, 2010
PubMed

Insights

The PCDH19 gene plays a significant role in infantile-onset epilepsy in females. Mutations in this gene are linked to various epilepsy types, including Dravet syndrome and focal epilepsy, with or without intellectual disability.

Area of Science:

  • Genetics
  • Neurology
  • Epilepsy Research

Background:

  • Epilepsy is a complex neurological disorder with diverse genetic underpinnings.
  • The PCDH19 gene, located on chromosome Xq22, has been implicated in epilepsy, particularly in females.

Purpose of the Study:

  • To investigate the causative role of the PCDH19 gene in female patients presenting with epilepsy.
  • To analyze the spectrum of epilepsy phenotypes associated with PCDH19 mutations.

Main Methods:

  • A cohort of 117 female patients with epilepsy, including febrile seizures (FS) and various epilepsy types, was studied.
  • Genetic screening for PCDH19 gene mutations was performed.

Main Results:

  • PCDH19 mutations were identified in 13% of the studied female epilepsy patients.
  • Common phenotypes included Dravet syndrome-like features and focal epilepsy, with seizures often starting in infancy and occurring in clusters.
  • Intellectual disability and autistic features were observed in a significant proportion of patients with PCDH19 mutations.

Conclusions:

  • PCDH19 is a key gene associated with infantile-onset epilepsy in females, manifesting in both familial and sporadic cases.
  • The study highlights epileptic encephalopathy with Dravet syndrome-like features and focal epilepsy as common phenotypes linked to PCDH19 mutations.
Abstract

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