Abstract：
INTRODUCTION:Tuberous sclerosis complex (TSC) is a rare autosomal dominant multi-organ disease. In TSC, epilepsy is frequent and often treatment refractory. Dysfunction of the tumour-suppressing hamartin/tuberin complex leads to an over-activated mammalian target of rapamycin (mTOR) signalling pathway and uncontrolled cell growth. Protocolled treatment of TSC-associated epilepsy with the mTOR inhibitor everolimus has recently been approved by The Danish Medicines Council in Denmark. METHODS:Clinical data on the first Danish paediatric patients treated with everolimus for epilepsy and a review of the literature are presented. RESULTS:Four patients met the inclusion criteria and had been treated for more than 12 months. Onset of epilepsy was at a median age of 1.1 years (range: 0.3-3.3 years) and current age was 3.4 years (range: 2.2-7.4 years). The previous median number of antiepileptic drugs was 5.0 (range: 2-10) and the concomitant median number of antiepileptic drugs was 2.5 (range: 1-4). Several other treatment modalities had been or were still being applied, including ketogenic diet (n = 3), vagus nerve stimulation (n = 1) and epilepsy surgery (n = 2). The number of focal seizures was in the 20-160 range per week before everolimus. All patients had a > 50% seizure reduction after 12 months of everolimus treatment. One patient became seizure free. Side effects were mild and self-limiting. CONCLUSIONS:Early data on everolimus as an adjunctive treatment in TSC-associated epilepsy are promising with regards to both effect and tolerability. FUNDING:none. TRIAL REGISTRATION:not relevant.
journal_name
Dan Med Jjournal_title
Danish medical journalauthors
Svarrer EMM,Fischer CM,Frederiksen MG,Born AP,Hoei-Hansen CEsubject
Has Abstractpub_date
2019-12-01 00:00:00issue
12issn
2245-1919pii
A5582journal_volume
66pub_type
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