An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy

Maurizio Elia, Carmelo Amato, Maria Bottitta, Lucia Grillo, Giuseppe Calabrese, Maria Esposito, Marco Carotenuto

Research output: Contribution to journalArticlepeer-review

Abstract

We report the case of a girl with Cowden syndrome (CS) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385G>A (G129R) in the PTEN gene. CS has been rarely reported in association with a cortical malformation or epilepsy. These cases suggest that cortical dysplasia needs to be suspected when a CS patient presents with drug-resistant seizures.

Original languageEnglish
Pages (from-to)873-876
Number of pages4
JournalBrain and Development
Volume34
Issue number10
DOIs
Publication statusPublished - Nov 2012

Keywords

  • Cortical malformation
  • Cowden syndrome
  • Focal epilepsy
  • PTEN

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

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