Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15)

S Matricardi, F Darra, A Spalice, C Basti, E Fontana, B Dalla Bernardina, M Elia, L Giordano, P Accorsi, R Cusmai, P De Liso, A Romeo, F Ragona, T Granata, D Concolino, M Carotenuto, P Pavone, D Pruna, P Striano, S SavastaA Verrotti

Research output: Contribution to journalArticlepeer-review

Abstract

OBJECTIVE: To define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome.

MATERIAL AND METHODS: The electroclinical data of 45 patients (25 males) affected by inv dup (15) and seizures were retrospectively analysed, and long-term follow-up of epilepsy was evaluated.

RESULTS: Epilepsy onset was marked by generalized seizures in 53% of patients, epileptic spasms in 51%, focal seizures in 26%, atypical absences in 11% and epileptic falls in 9%. The epileptic syndromes defined were: generalized epilepsy (26.7%), focal epilepsy (22.3%), epileptic encephalopathy with epileptic spasms as the only seizure type (17.7%) and Lennox-Gastaut syndrome (33.3%). Drug-resistant epilepsy was detected in 55.5% of patients. There was a significant higher prevalence of seizure-free patients in those with seizure onset after the age of 5 years and with focal epilepsy, with respect to those with earlier epilepsy onset because most of these later developed an epileptic encephalopathy (69.2% vs 34.4%; P = .03), usually Lennox-Gastaut Syndrome in type. In fact, among patients with early-onset epilepsy, those presenting with epileptic spasms as the only seizure type associated with classical hypsarrhythmia achieved seizure freedom (P < .001) compared to patients with spasms and other seizure types associated with modified hypsarrhythmia.

CONCLUSIONS: Epilepsy in inv dup (15) leads to a more severe burden of disease. Frequently, these patients show drug resistance, in particular when epilepsy onset is before the age of five and features epileptic encephalopathy.

Original languageEnglish
Pages (from-to)575-581
Number of pages7
JournalActa Neurologica Scandinavica
Volume137
Issue number6
DOIs
Publication statusPublished - Jun 2018

Keywords

  • Adolescent
  • Child
  • Chromosome Disorders/diagnosis
  • Chromosomes, Human, Pair 15
  • Cohort Studies
  • Electroencephalography/methods
  • Epilepsy/diagnosis
  • Female
  • Humans
  • Male
  • Retrospective Studies
  • Seizures/physiopathology
  • Time Factors
  • Treatment Outcome

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