Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study.

Kelsey Poisson, Matthew Wong, Chon Lee, Maria Roberta Cilio

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020;25():77-81

PMID: 31926846

Full Text on Elsevier Science View on PubMed

Abstract

Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare, developmental and epileptic encephalopathy most commonly associated with mutations in KCNT1, a potassium channel. Polymorphous migrating focal seizures begin within 6 months of life and are pharmacoresistant to standard anticonvulsants. Additional therapies are needed to decrease seizure frequency and subsequent developmental deterioration associated with EIMFS. Cannabidiol (CBD) has recently arisen in public interest due to its potential in treatment-resistant epilepsies as demonstrated in randomized controlled trials for Dravet Syndrome and Lennox-Gastaut Syndrome. Here we evaluate the response of three patients, all diagnosed with EIMFS secondary to KCNT1 mutations, to pharmaceutical grade CBD. Two patients showed no benefit and have since voluntarily stopped CBD. One patient showed no overall reduction in seizure frequency, however showed a notable reduction in seizure intensity with possible developmental progression. Further studies are needed to assess the potential benefit of CBD in treatment-resistant epilepsies such as EIMFS, with a focus on early identification and intervention.

Address: Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, OH, 45229, USA; Department of Neurology, Wake Forest Baptist Medical Center, 1 Medical Center Blvd, Winston Salem, NC, 27157, USA. Electronic address: [email protected].; Department of Neurology, Wake Forest Baptist Medical Center, 1 Medical Center Blvd, Winston Salem, NC, 27157, USA.; Department of Neurology, Wake Forest Baptist Medical Center, 1 Medical Center Blvd, Winston Salem, NC, 27157, USA; Department of Neurology, University of North Carolina Medical Center, 170 Manning Dr, Chapel Hill, NC, 27599, USA.; Department of Neurology, Benioff Children's Hospital, University of California San Francisco, 1975 4th St, San Francisco, CA, USA, 94118; Department of Pediatrics and Institute of Clinical and Experimental Research, University Hospital Saint-Luc, University of Louvain, Avenue Hippocrate 10, 1200, Bruxelles, Belgium.

DOI: 10.1016/j.ejpn.2019.12.024

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MeSH Terms: Adolescent, Anticonvulsants, Cannabidiol, Child, Preschool, Epileptic Syndromes, Female, Humans, Infant, Male, Mutation, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, Prospective Studies, Seizures, Spasms, Infantile