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A Rare Congenital Cause of Epilepsy

Neethu Gopal1, Ayushi Jain2, Sukhwinder Johnny S Sandhu3

  • 1Neurology, Mayo Clinic, Jacksonville, USA.

Cureus
|December 3, 2020
PubMed

Insights

Enlarged parietal foramina (PFM) are skull defects. This case highlights rare brain malformations, including polymicrogyria, linked to PFM and ALX4 gene mutations.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Neurology

Background:

  • Enlarged parietal foramina (PFM) are congenital calvarial defects.
  • While typically lacking intracranial abnormalities, PFM can rarely coexist with brain malformations.
  • Genetic factors are increasingly implicated in specific PFM subtypes.

Keywords:
brain malformationcalvarial malformationepilepsy

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