Waak, M. et al. (2017) GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. Journal of Neurology, Neurosurgery and Psychiatry, (doi: 10.1136/jnnp-2017-315653) (PMID:28668776)
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Abstract
GNAO1 (OMIM 139311) encodes an Gα0 CNS protein responsible for regulation of GABA-B and α2-receptors, and neurotransmitter release. Mutations of GNAO1 are reported in patients with epileptic encephalopathy (EE) at times with a movement disorder (MD); some display severe hyperkinetic movements without EE, three underwent Deep Brain Stimulation (DBS) with reduction in exacerbations.1–4 (see online supplementary table 3, supporting information (SI)).
Item Type: | Articles (Letter) |
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Keywords: | Chorea, DBS, Dyskinetic Cerebral Palsy, GNAO1, hyperkinetic. |
Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Symonds, Dr Joseph |
Authors: | Waak, M., Mohammad, S., Coman, D., Sinclair, K., Copeland, L., Silburn, P., Coyne, T., McGill, J., O'Regan, M., Selway, R., Symonds, J., Grattan-Smith, P., Lin, J.-P., Dale, R. C., and Malone, S. |
College/School: | College of Medical Veterinary and Life Sciences |
Journal Name: | Journal of Neurology, Neurosurgery and Psychiatry |
Publisher: | BMJ Publishing Group |
ISSN: | 0022-3050 |
ISSN (Online): | 1468-330X |
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