Drug-resistant focal epilepsy in a girl with SETD5-related intellectual disability

Ranjith Kumar Manokaran; Ayako Ochi; Elizabeth Kerr; Gregory Costain; Olivia Moran; Hiroshi Otsubo; Robyn Whitney; Puneet Jain

doi:10.1016/j.seizure.2023.09.025

Drug-resistant focal epilepsy in a girl with SETD5-related intellectual disability

Seizure. 2023 Nov:112:109-111. doi: 10.1016/j.seizure.2023.09.025. Epub 2023 Oct 3.

Authors

Ranjith Kumar Manokaran¹, Ayako Ochi², Elizabeth Kerr³, Gregory Costain⁴, Olivia Moran⁵, Hiroshi Otsubo⁶, Robyn Whitney⁷, Puneet Jain⁸

Affiliations

¹ Epilepsy Program, Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8 Canada; Division of Paediatric neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu, India. Electronic address: ranjith.manokaran@sickkids.ca.
² Epilepsy Program, Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8 Canada. Electronic address: ayako.ochi@sickkids.ca.
³ Department of Psychology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. Electronic address: elizabeth.kerr@sickkids.ca.
⁴ Division of Clinical and Metabolic Genetics, Hospital for Sick Children, and Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada. Electronic address: gregory.costain@sickkids.ca.
⁵ Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada. Electronic address: olivia.moran@sickkids.ca.
⁶ Epilepsy Program, Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8 Canada. Electronic address: hiroshi.otsubo@sickkids.ca.
⁷ Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, ON, Canada. Electronic address: whitner@mcmaster.ca.
⁸ Epilepsy Program, Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8 Canada. Electronic address: puneet.jain@sickkids.ca.

PMID: 37797428
DOI: 10.1016/j.seizure.2023.09.025

Abstract

None.

Keywords: Cannabidiol; Epilepsy surgery; Ketogenic diet; SEEG; Whole exome sequencing.

Publication types

Case Reports

MeSH terms

Drug Resistant Epilepsy* / drug therapy
Epilepsies, Partial* / complications
Epilepsies, Partial* / drug therapy
Female
Humans
Intellectual Disability* / complications
Intellectual Disability* / genetics
Methyltransferases

Substances

Methyltransferases
SETD5 protein, human