Electrophysiological analysis of various models to gain insight into the mechanisms underlying neurodevelopmental and neurodegenerative diseases.
- 2017-present Postdoctoral fellow – David Wyllie, Peter Kind, Centre for Discovery Brain Sciences, The University of Edinburgh.
- 2016-present Postdoctoral fellow - Siddharthan Chandran, Centre for Clinical Brain Sciences, The University of Edinburgh.
- 2006-2016 Postdoctoral fellow – Mandy Jackson, Centre for Integrative Physiology, The University of Edinburgh.
- 2002-2006 PhD Student – Philip Larkman, Division of Neuroscience, The University of Edinburgh.
As a member of labs in both the Centre for Brain Discovery Sciences and Centre of Clinical Brain Sciences I perform electrophysiological analysis of various models to gain insight into the mechanisms underlying neurodevelopmental and neurodegenerative diseases.
Currently, I am interested in neuronal dysfunction in a rodent model of CDKL5 deficiency, a severe neurodevelopmental disorder, and in assessing the properties of neurons derived from human pluripotent stem cells from individuals with amytrophic lateral sclerosis and frontotemporal dementia.
Perkins EM, Clarkson YL, Suminaite D, Lyndon AR, Tanaka K, Wyllie DJA, Rothstein JD, Skehel P, Wyllie DJA & Jackson M (2018). Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells. Hum. Mol. Genet. [Epub ahead of print] https://doi.org/10.1093/hmg/ddy169
Selvaraj BT*, Livesey MR*, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Nishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magnani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GE, Wyllie DJA, Chandran S. (2018) C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity. Nat. Comms. 9:347.
Perkins EM, Suminaite D, Clarkson YL, Lee SK, Lyndon AR, Wyllie DJA, Rothstein JD, Tanaka K & Jackson M (2016). Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST. Hum. Mol. Genet. 25(20):4448-61
Perkins EM, Suminaite D, Jackson M (2016). Cerebellar ataxias: β- III spectrin’s interactions suggest common pathogenic mechanisms. J Physiol., 594:4661-76 [Editor’s choice & front cover image]
Schnekenberg RP, Perkins EM, Miller J, Davies WIL, D’Adamo MC, Pessia M, Fawcett K, Sims D, Gillard E, Hudspith K, Williams J, O’Regan M, Jayawant S, Jefferson R, Hughes S, Steinlin M, Lustenberger A, Ragoussis J, Jackson M, Tucker ST, Németh AH (2015). De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain, 138:1817-1832
Clarkson YL*, Perkins EM*, Cairncross CJ, Lyndon AR, Skehel PA, Jackson M. (2014) β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. Hum Mol Genet. 23(14):3875-82 (*equal contribution)
Smillie KJ, Pawson J, Perkins EM, Jackson M, Cousin MA. (2013) Control of synaptic vesicle endocytosis by an extracellular signalling molecule. Nat Commun. 4:2394.
Lise S*, Clarkson Y*, Perkins E* et al. Recessive mutations in SPTBN2 implicate Beta-III spectrin in both cognitive and motor development. PLoS Genet (2012) Dec;8(12): e1003074 (*equal contribution)
Gao Y, Perkins EM, Clarkson YL, Tobia S, Lyndon AR, Jackson M, Rothstein JD (2011) Beta-III spectrin is critical for development of Purkinje cell dendritic tree and spine morphogenesis. J Neuroscience 31, 16581-90
Perkins EM, Clarkson YL, Sabatier N et al (2010) Loss of Beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behaviour and neuropathology of spinocerebellar ataxia type 5 in humans. J. Neurosci. 30: 4857-4867