Epileptic and neurodevelopmental encephalopathy associated to SYNGAP1 mutation: Description of a case and treatment response to cannabidiol

Neurologia (Engl Ed). 2024 Jan-Feb;39(1):101-103. doi: 10.1016/j.nrleng.2023.12.002. Epub 2023 Dec 4.

Authors

Y López-Moreno¹, P Cabezudo-García², N L Ciano-Petersen², G García-Martín², P J Serrano-Castro²

Affiliations

¹ Instituto de Investigación Biomédica de Málaga - IBIMA, Málaga, Spain. Electronic address: YOLANDA.LOPEZMORENO@osakidetza.eus.
² Instituto de Investigación Biomédica de Málaga - IBIMA, Málaga, Spain; Red Andaluza de Investigación Clínica y Traslacional en Neurología (NeuroRECA), Málaga, Spain; Servicio de Neurología, Hospital Regional Universitario de Málaga, Málaga, Spain.

PMID: 38056595
DOI: 10.1016/j.nrleng.2023.12.002

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Brain Diseases*
Cannabidiol* / therapeutic use
Epilepsy* / drug therapy
Epilepsy* / genetics
Humans
Mutation
ras GTPase-Activating Proteins

Substances

Cannabidiol
ras GTPase-Activating Proteins
SYNGAP1 protein, human