@article{d0146126e8cb4cb3969486af0a579640,
title = "Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy",
abstract = "Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients.",
keywords = "Adolescent, Adult, Affective Symptoms, Cadherins, Child, Child, Preschool, Cognition Disorders, Computational Biology, DNA Mutational Analysis, Electroencephalography, Female, Follow-Up Studies, Genetic Predisposition to Disease, Humans, Mutation, Neuropsychological Tests, Seizures, Video Recording, Young Adult, Adolescent, Adult, Affective Symptoms, Cadherins, Child, Child, Preschool, Cognition Disorders, Computational Biology, DNA Mutational Analysis, Electroencephalography, Female, Follow-Up Studies, Genetic Predisposition to Disease, Humans, Mutation, Neuropsychological Tests, Seizures, Video Recording, Young Adult",
author = "Carla Marini and Francesca Darra and Nicola Specchio and Davide Mei and Alessandra Terracciano and Lucio Parmeggiani and Annarita Ferrari and Federico Sicca and Massimo Mastrangelo and Luigina Spaccini and Canopoli, {Maria Lucia} and Elisabetta Cesaroni and Nelia Zamponi and Lorella Caffi and Paolo Ricciardelli and Salvatore Grosso and Tiziana Pisano and Canevini, {Maria Paola} and Tiziana Granata and Patrizia Accorsi and Battaglia, {Domenica Immacolata} and Raffaella Cusmai and Federico Vigevano and Bernardina, {Bernardo Dalla} and Renzo Guerrini",
year = "2012",
doi = "10.1111/j.1528-1167.2012.03649.x",
language = "English",
volume = "53",
pages = "2111--2119",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell Publishing Ltd",
}