PMID- 31791480
OWN - NLM
STAT- MEDLINE
DCOM- 20200413
LR  - 20200413
IS  - 2245-1919 (Electronic)
IS  - 2245-1919 (Linking)
VI  - 66
IP  - 12
DP  - 2019 Dec
TI  - Everolimus as adjunctive treatment in tuberous sclerosis complex-associated 
      epilepsy in children.
LID - A5582 [pii]
AB  - 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.
CI  - Articles published in the DMJ are "open access". This means that the articles are 
      distributed under the terms of the Creative Commons Attribution Non-commercial 
      License, which permits any non-commercial use, distribution, and reproduction in 
      any medium, provided the original author(s) and source are credited.
FAU - Svarrer, Eva Martha Madsen
AU  - Svarrer EMM
FAU - Fischer, Claudia Maria
AU  - Fischer CM
FAU - Frederiksen, Mikkel Grenaa
AU  - Frederiksen MG
FAU - Born, Alfred Peter
AU  - Born AP
FAU - Hoei-Hansen, Christina Engel
AU  - Hoei-Hansen CE
AD  - chh@dadlnet.dk.
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Dan Med J
JT  - Danish medical journal
JID - 101576205
RN  - 0 (Anticonvulsants)
RN  - 9HW64Q8G6G (Everolimus)
SB  - IM
MH  - Anticonvulsants/*administration & dosage
MH  - Child
MH  - Child, Preschool
MH  - Drug Resistant Epilepsy/*drug therapy/etiology
MH  - Everolimus/*administration & dosage
MH  - Humans
MH  - Tuberous Sclerosis/complications/*drug therapy
EDAT- 2019/12/04 06:00
MHDA- 2020/04/14 06:00
CRDT- 2019/12/04 06:00
PHST- 2019/12/04 06:00 [entrez]
PHST- 2019/12/04 06:00 [pubmed]
PHST- 2020/04/14 06:00 [medline]
AID - A5582 [pii]
PST - ppublish
SO  - Dan Med J. 2019 Dec;66(12):A5582.