Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3037307 | Brain and Development | 2012 | 4 Pages |
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.
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Authors
Maurizio Elia, Carmelo Amato, Maria Bottitta, Lucia Grillo, Giuseppe Calabrese, Maria Esposito, Marco Carotenuto,