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

Domenica Immacolata Battaglia, C Marini, F Darra, N Specchio, D Mei, A Terracciano, L Parmeggiani, A Ferrari, F Sicca, M Mastrangelo, L Spaccini, Ml Canopoli, E Cesaroni, N Zamponi, L Caffi, P Ricciardelli, S Grosso, T Pisano, Mp Canevini, T GranataP Accorsi, R Cusmai, F Vigevano, B Dalla Bernardina, R. Guerrini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

59 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)2111-2119
Numero di pagine9
RivistaEpilepsia
Volume53
DOI
Stato di pubblicazionePubblicato - 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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