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

doi:10.1016/j.braindev.2012.03.005

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

www.irccs.oasi.en.it

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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 language	English
Pages (from-to)	873-876
Number of pages	4
Journal	Brain and Development
Volume	34
Issue number	10
DOIs	https://doi.org/10.1016/j.braindev.2012.03.005
Publication status	Published - 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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10.1016/j.braindev.2012.03.005

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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.",

keywords = "Cortical malformation, Cowden syndrome, Focal epilepsy, PTEN",

author = "Maurizio Elia and Carmelo Amato and Maria Bottitta and Lucia Grillo and Giuseppe Calabrese and Maria Esposito and Marco Carotenuto",

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AU - Elia, Maurizio

AU - Amato, Carmelo

AU - Bottitta, Maria

AU - Grillo, Lucia

AU - Calabrese, Giuseppe

AU - Esposito, Maria

AU - Carotenuto, Marco

PY - 2012/11

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AB - 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.

KW - Cortical malformation

KW - Cowden syndrome

KW - Focal epilepsy

KW - PTEN

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

Abstract

Keywords

ASJC Scopus subject areas

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