title: An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.
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.
authors.affiliation: Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Carmelo
authors.initials: C
authors.lastname: Amato
authors.forename: Maria
authors.initials: M
authors.lastname: Bottitta
authors.forename: Lucia
authors.initials: L
authors.lastname: Grillo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.forename: Maria
authors.initials: M
authors.lastname: Esposito
authors.forename: Marco
authors.initials: M
authors.lastname: Carotenuto
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D004828:Epilepsies, Partial / Q000150:complications / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D054220:Malformations of Cortical Development / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D051059:PTEN Phosphohydrolase / Q000235:genetics*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human