Human GABRG2 generalized epilepsy increased somatosensory and striatothalamic connectivity

M Pedersen; M Kowalczyk; A Omidvarnia; P Perucca; S Gooley; S Petrou; IE Scheffer; SF Berkovic; GD Jackson

Journal article

Human GABRG2 generalized epilepsy increased somatosensory and striatothalamic connectivity

M Pedersen, M Kowalczyk, A Omidvarnia, P Perucca, S Gooley, S Petrou, IE Scheffer, SF Berkovic, GD Jackson

Neurology Genetics | LIPPINCOTT WILLIAMS & WILKINS | Published : 2019

DOI: 10.1212/NXG.0000000000000340

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Abstract

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 withi..

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University of Melbourne Researchers

Magdalena Kowalczyk Author

Piero Perucca Author

Ingrid Scheffer Author

Sam Berkovic Author

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Grants

Awarded by State Government of Victoria

Funding Acknowledgements

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).