Human GABRG2 generalized epilepsy Increased somatosensory and striatothalamic connectivity
Mangor Pedersen, Magdalena Kowalczyk, Amir Omidvarnia, Piero Perucca, Samuel Gooley, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Graeme D Jackson
Neurology Genetics | LIPPINCOTT WILLIAMS & WILKINS | Published : 2019
Objective: To map functional MRI (fMRI) connectivity within and between the somatosensory cortex, putamen, and ventral thalamus in individuals from a family with a GABAergic deficit segregating with febrile seizures and genetic generalized epilepsy. Methods: We studied 5 adults from a family with early-onset absence epilepsy and/or febrile seizures and a GABAA receptor subunit gamma2 pathogenic variant (GABRG2[R43Q]) vs 5 age-matched controls. We infer differences between participants with the GABRG2 pathogenic variant and controls in resting-state fMRI connectivity within and between the somatosensory cortex, putamen, and ventral thalamus. Results: We observed increased fMRI connectivity wi..View full abstract
Awarded by National Health and Medical Research Council (NHMRC) of Australia
The Florey Institute of Neuroscience and Mental Health acknowledges the strong support from the Victorian Government and in particular the funding from the Operational Infrastructure Support Grant. They also acknowledge the facilities and the scientific and technical assistance of the National Imaging Facility (NIF) at the Florey node and The Victorian Biomedical Imaging Capability (VBIC). This study was supported by the National Health and Medical Research Council (NHMRC) of Australia, grant numbers 628952 and 1060312 (GJ Practitioner Fellowship) and program grant number 1091593 (S. Petrou, I.E. Scheffer, S.F. Berkovic, and G.D. Jackson).