evaluation should be promptly started to assess
the possibility of a surgical resection of the
epileptic focus. Although data are not
homogeneous, seizure freedom is achieved in
a mean of 63% (range 25% to 90%) of surgically
treated patients, with better results if the
epileptogenic zone is accurately localised and
the surgery is performed promptly. 15
inhibition of mTOR complex. 17 In the few
available studies, more than 50% seizure
reduction has been reported in 90% of cases. 18
mTOR inhibition
The identification of a specific molecular pathway
underlying epilepsy in TSC paved the way for
evaluating the efficacy and safety of available
mTOR inhibitors (rapamycin and its analogue
everolimus) in TSC-related epilepsy. Previously
available treatment options for epilepsy in TSC
only provided a symptomatic treatment for
seizures, whereas these drugs act on TSC
pathogenesis, even presenting the potential
of representing a disease-modifying systemic
therapy.
A first prospective, multicentre Phase I/II study
enrolled 20 patients, and 72% of the 18
individuals completing the 48 months
observation showed a ≥50% reduction in seizure
frequency. 19,20 In a German clinical series, 57% of
enrolled children showed 25–100% of seizure
frequency reduction with adjunctive everolimus. 21
In another small study focusing on children and
adolescents, 71% of subjects treated with
Vagus nerve stimulation
In patients not responding to anti-epileptic
treatment and for whom surgery is not an option,
vagus nerve stimulation should be considered.
Although data are limited, seizure freedom is
quite rare after vagus nerve stimulation
implantation; however, a clinically significant
response with a seizure frequency reduction
higher than 50% in about 70% of treated patients. 16
Ketogenic diet
In patients with refractory seizures who are not
candidates for surgery, a ketogenic diet should
also be considered. There are very limited but
promising data for this non-pharmacological
option, which seems to act with a partial
A shorter gap
from seizure
onset and
treatment
initiation
guarantees a
better long-term
outcome, both in
terms of seizure
refractoriness
and neuro-
psychological
evolution
11
HHE 2018 | hospitalhealthcare.com