PMID- 32913957
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240329
IS  - 2470-9239 (Print)
IS  - 2470-9239 (Electronic)
IS  - 2470-9239 (Linking)
VI  - 5
IP  - 3
DP  - 2020 Sep
TI  - Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 
      developmental and epileptic encephalopathy.
PG  - 496-500
LID - 10.1002/epi4.12411 [doi]
AB  - Mutations in SYNGAP1 are associated with developmental delay, epilepsy, and 
      autism spectrum disorder (ASD). Epilepsy is often drug-resistant in this syndrome 
      with frequent drop attacks. In a prospective study of add-on cannabidiol (CBD), 
      we identified three patients with SYNGAP1 mutations: two boys and one girl. 
      Seizure onset was at 3.5, 8, and 18 months (M), respectively, with numerous 
      atypical absences per day associated with eyelid myoclonia (2/3 patients), upper 
      limb myoclonic jerks (2/3 patients), and drop attacks (all patients). Seizures 
      were resistant to at least 5 antiepileptic drugs (AEDs). After CBD introduction, 
      two patients were responders since M2 and achieve a seizure reduction of 90% and 
      80%, respectively, at M9 with disappearance of drop attacks. EEGs showed an 
      improvement regarding background activity and interictal anomalies. The last 
      patient showed a late response at M7 of treatment with an 80% decrease in seizure 
      frequency. Caregiver in all three evaluated as much improved the status of their 
      children. Treatment was well-tolerated in all, and no major adverse events (AEs) 
      were reported. CBD showed efficacy in patients with drug-resistant epilepsy due 
      to SYNGAP1 mutations. Other patients with rare genetic developmental and 
      epileptic encephalopathies with drug-resistant epilepsies might benefit from CBD.
CI  - (c) 2020 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf 
      of International League Against Epilepsy.
FAU - Kuchenbuch, Mathieu
AU  - Kuchenbuch M
AUID- ORCID: 0000-0002-5944-2204
AD  - Department of Pediatric Neurology Reference Centre for Rare Epilepsies Hopital 
      Necker-Enfants Malades Paris France.
AD  - Laboratory of Translational Research for Neurological Disorders INSERM UMR 1163 
      Imagine Institute Paris France.
AD  - Universite Paris Descartes -Universite de Paris Paris France.
FAU - D'Onofrio, Gianluca
AU  - D'Onofrio G
AUID- ORCID: 0000-0003-4987-5919
AD  - Department of Pediatric Neurology Reference Centre for Rare Epilepsies Hopital 
      Necker-Enfants Malades Paris France.
FAU - Chemaly, Nicole
AU  - Chemaly N
AD  - Department of Pediatric Neurology Reference Centre for Rare Epilepsies Hopital 
      Necker-Enfants Malades Paris France.
AD  - Laboratory of Translational Research for Neurological Disorders INSERM UMR 1163 
      Imagine Institute Paris France.
FAU - Barcia, Giulia
AU  - Barcia G
AUID- ORCID: 0000-0001-6657-5040
AD  - Laboratory of Translational Research for Neurological Disorders INSERM UMR 1163 
      Imagine Institute Paris France.
AD  - Department of genetic Hopital Necker-Enfants Malades Paris France.
FAU - Teng, Theo
AU  - Teng T
AD  - Department of Pediatric Neurology Reference Centre for Rare Epilepsies Hopital 
      Necker-Enfants Malades Paris France.
FAU - Nabbout, Rima
AU  - Nabbout R
AUID- ORCID: 0000-0001-5877-4074
AD  - Department of Pediatric Neurology Reference Centre for Rare Epilepsies Hopital 
      Necker-Enfants Malades Paris France.
AD  - Laboratory of Translational Research for Neurological Disorders INSERM UMR 1163 
      Imagine Institute Paris France.
AD  - Universite Paris Descartes -Universite de Paris Paris France.
LA  - eng
PT  - Journal Article
DEP - 20200701
PL  - United States
TA  - Epilepsia Open
JT  - Epilepsia open
JID - 101692036
PMC - PMC7469777
OTO - NOTNLM
OT  - atypical absence
OT  - drug-resistant
OT  - efficacy
OT  - epileptic encephalopathy
OT  - myoclonic seizures
OT  - safety
COIS- None of the authors has any conflict of interest to disclose. We confirm that we 
      have read the Journal's position on issues involved in ethical publication and 
      affirm that this report is consistent with those guidelines.
EDAT- 2020/09/12 06:00
MHDA- 2020/09/12 06:01
PMCR- 2020/07/01
CRDT- 2020/09/11 05:45
PHST- 2020/04/07 00:00 [received]
PHST- 2020/05/03 00:00 [revised]
PHST- 2020/05/28 00:00 [accepted]
PHST- 2020/09/11 05:45 [entrez]
PHST- 2020/09/12 06:00 [pubmed]
PHST- 2020/09/12 06:01 [medline]
PHST- 2020/07/01 00:00 [pmc-release]
AID - EPI412411 [pii]
AID - 10.1002/epi4.12411 [doi]
PST - epublish
SO  - Epilepsia Open. 2020 Jul 1;5(3):496-500. doi: 10.1002/epi4.12411. eCollection 
      2020 Sep.