Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Alessandra Terracciano, Lucio Parmeggiani, Annarita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia AccorsiDomenica Immacolata Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina, Renzo Guerrini

Research output: Contribution to journalArticle

59 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)2111-2119
Number of pages9
JournalEpilepsia
Volume53
DOIs
Publication statusPublished - 2012

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

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