@article{0c4c85ea734244e3bdffdde849cbd78c,
title = "Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study",
abstract = "Objective: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy and better define the epileptic phenotype, genotype-phenotype correlations, and related outcome-predicting factors. Methods: We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers. All consecutively performed EEGs were analyzed, totaling 551. We considered as outcome measures the development of ID, autistic spectrum disorder (ASD), and seizure persistence. The analyzed variables were the following: gender, age at onset, age at study, genetic variant, fever sensitivity, seizure type, cluster occurrence, status epilepticus, EEG abnormalities, and cognitive and behavioral disorders. Receiver operating characteristic curve analysis was performed to evaluate the age at which seizures might decrease in frequency. Results: At last follow-up (median = 12 years, range = 1.9-42.1 years), 48 patients (78.7%) had annual seizures/clusters, 13 patients (21.3%) had monthly to weekly seizures, and 12 patients (19.7%) were seizure-free for ≥2 years. Receiver operating characteristic analysis showed a significant decrease of seizure frequency after the age of 10.5 years (sensitivity = 81.0%, specificity = 70.0%). Thirty-six patients (59.0%) had ID and behavioral disturbances. ASD was present in 31 patients. An earlier age at epilepsy onset emerged as the only predictive factor for ID (P = 0.047) and ASD (P = 0.014). Conversely, age at onset was not a predictive factor for seizure outcome (P = 0.124). Significance: We found that earlier age at epilepsy onset is related to a significant risk for ID and ASD. Furthermore, long-term follow-up showed that after the age of 10 years, seizures decrease in frequency and cognitive and behavioral disturbances remain the primary clinical problems.",
keywords = "Adolescent, Adult, Age of Onset, Autistic Disorder, Cadherins, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epileptic Syndromes, Female, Humans, Infant, Intellectual Disability, Male, PCDH19, Phenotype, Retrospective Studies, Seizures, Treatment Outcome, Young Adult, epileptic encephalopathy, focal epilepsy, genetic epilepsy, genotype-phenotype correlation, Adolescent, Adult, Age of Onset, Autistic Disorder, Cadherins, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epileptic Syndromes, Female, Humans, Infant, Intellectual Disability, Male, PCDH19, Phenotype, Retrospective Studies, Seizures, Treatment Outcome, Young Adult, epileptic encephalopathy, focal epilepsy, genetic epilepsy, genotype-phenotype correlation",
author = "Marina Trivisano and Nicola Pietrafusa and Alessandra Terracciano and Carla Marini and Davide Mei and Francesca Darra and Patrizia Accorsi and Battaglia, {Domenica Immacolata} and Lorella Caffi and Canevini, {Maria P.} and Simona Cappelletti and Elisabetta Cesaroni and {De Palma}, Luca and Paola Costa and Paolo Costa and Raffaella Cusmai and Lucio Giordano and Liliana Giordano and Annarita Ferrari and Elena Freri and Lucia Fusco and Tiziana Granata and Tommaso Martino and Massimo Mastrangelo and Marica Mastrangelo and Bova, {Stefania M.} and Lucio Parmeggiani and Francesca Ragona and Federico Sicca and Pasquale Striano and Specchio, {Luigi M.} and Ilaria Tondo and Elena Zambrelli and Nelia Zamponi and Caterina Zanus and Clementina Boniver and Marilena Vecchi and Carlo Avolio and {Dalla Bernardina}, Bernardo and Enrico Bertini and Bertini, {Enrico Silvio} and Renzo Guerrini and Federico Vigevano and Nicola Specchio",
year = "2018",
doi = "10.1111/epi.14600",
language = "English",
volume = "59",
pages = "2260--2271",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL:
[email protected], INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320",
}