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 journalArticle

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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  • Cite this

    Matricardi, S., Darra, F., Spalice, A., Basti, C., Fontana, E., Dalla Bernardina, B., Elia, M., Giordano, L., Accorsi, P., Cusmai, R., De Liso, P., Romeo, A., Ragona, F., Granata, T., Concolino, D., Carotenuto, M., Pavone, P., Pruna, D., Striano, P., ... Verrotti, A. (2018). Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15). Acta Neurologica Scandinavica, 137(6), 575-581. https://doi.org/10.1111/ane.12902