GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.

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)
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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