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- W2803162189 abstract "Mutations in the GNAO1 gene cause a complex constellation of neurological disorders including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gαo, the α subunit of Go, a member of the Gi/o family of heterotrimeric G protein signal transducers. Go is the most abundant membrane protein in the mammalian central nervous system and plays major roles in synaptic neurotransmission and neurodevelopment. GNAO1 mutations were first reported in early infantile epileptic encephalopathy 17 (EIEE17) but are also associated with a more common syndrome termed neurodevelopmental disorder with involuntary movements (NEDIM). Here we review a mechanistic model in which loss-of-function (LOF) GNAO1 alleles cause epilepsy and gain-of-function (GOF) alleles are primarily associated with movement disorders. We also develop a signaling framework related to cyclic AMP (cAMP), synaptic vesicle release, and neural development and discuss gene mutations perturbing those mechanisms in a range of genetic movement disorders. Finally, we analyze clinical reports of patients carrying GNAO1 mutations with respect to their symptom onset and discuss pharmacological/surgical treatments in the context of our mechanistic model." @default.
- W2803162189 created "2018-06-01" @default.
- W2803162189 creator A5003058598 @default.
- W2803162189 creator A5016819654 @default.
- W2803162189 creator A5036183838 @default.
- W2803162189 creator A5042114261 @default.
- W2803162189 date "2018-08-01" @default.
- W2803162189 modified "2023-10-18" @default.
- W2803162189 title "A mechanistic review on GNAO1-associated movement disorder" @default.
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