Clinical experience with eslicarbazepine acetate in adults with sub-analysis of elderly.

PURPOSE: Eslicarbazepine acetate (ESL) is indicated for treatment of focal epilepsy. Our aim was to evaluate the effect and tolerability of ESL in elderly and younger adults. The primary objective was to measure changes in seizure frequency before and after at least six months of treatment. Secondary objective was to analyse the safety profile. Sub-analysis was performed in patients previously treated with oxcarbamazepine. METHOD: A single-centre, retrospective study of patients with focal epilepsy treated with ESL. Data were collected by reviewing the clinical and laboratory files. Seventy-two patients received ESL, of which 14 were ≥60 years old, and were analysed for adverse effects. Fifty-nine patients received treatment for ≥6 months and were included in the evaluation of seizure frequency; in this group 12 were ≥60 years old. RESULTS: Seizure frequency (n=59) was reduced for both young adults (< 60years) and elderly adults (≥60); both groups achieved better seizure control from an average of 2 to 0.5 (p-value: 0.002) and 3.5 to 0.65 (p-value:<0.05) seizures per month, respectively. Adverse effects leading to treatment discontinuation (n=72) were more frequent in elderly (42.9%) than in young adults (17.2%) (p-value 0.04). There was no significant difference in mild adverse effects between young (15.5%) and elderly adults (14.3%). Most common adverse effects were somnolence, gastrointestinal disturbances and dizziness. CONCLUSIONS: The study indicates that ESL has an advantageous profile in relation to seizure control. The discontinuation rate might be higher in elderly than in younger adults. Further prospective studies are needed to confirm these conclusions.

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features.

We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2 Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.