Matricardi S, et al. - This study was performed to define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome. As per the outcomes, epilepsy in inv dup (15) led to a more severe burden of disease. These patients often indicated drug resistance, especially when epilepsy onset was before the age of 5 and features epileptic encephalopathy.

Methods

• The researches retrospectively examined electroclinical data of 45 patients (25 males) affected by inv dup (15) and seizures.
• They evaluated long-term follow-up of epilepsy.

Results

• Epilepsy onset was marked by generalized seizures, epileptic spasms, focal seizures, atypical absences and epileptic falls in 53%, 51%, 26%, 11% and 9% of patients, respectively.
• 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%) were defined as the epileptic syndromes.
• The researchers detected drug-resistant epilepsy in 55.5% of patients.
• In those with seizure onset after the age of 5 years and with focal epilepsy, there was a significantly higher prevalence of seizure-free patients, 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.
• 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.