Defining the electroclinical phenotype and outcome of PCDH19 ‐related epilepsy: A multicenter study

SummaryObjectivePCDH19 ‐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 bet ter define the epileptic phenotype, genotype‐phenotype correlations, and related outcome‐predicting factors.MethodsWe 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.ResultsAt 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 f requency after the age of 10.5 year...
Source: Epilepsia - Category: Neurology Authors: Tags: FULL ‐LENGTH ORIGINAL RESEARCH Source Type: research