GNAO1 encephalopathy: clinical features
Evidence-based neurology checklist on gnao1 encephalopathy: clinical features: Genetics and pathology This is caused by mutations in the GNAO1 gene on chromosome 16 The gene encodes the Gαo subunit of G proteins The mutation disrupts the G-protein cAMP pathway axis The mutations may increase the…
Genetics and pathology
- This is caused by mutations in the GNAO1 gene on chromosome 16
- The gene encodes the Gαo subunit of G proteins
- The mutation disrupts the G-protein cAMP pathway axis
- The mutations may increase the risk of ependymomas and glioblastomas
- The mildest phenotypes are associated with variants affecting the C-terminal region
GNAO1 phenotypes
Gender features
Developmental features
Epilepsy types
Movement disorders: dyskinesias
Movement disorders: others
Other features
References
- Danti FR, Galosi S, Romani M, et al.GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurol Genet 2017; 3:e143.
- Arya R, Spaeth C, Gilbert DL, Leach JL, Holland KD. GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. Epileptic Disord 2017; 19:67-75.
- Saitsu H, Fukai R, Ben-Zeev B, et al. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet 2016; 24:129-134.
- Nakamura K, Kodera H, Akita T, et al. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet 2013; 93:496-505.
- Kelly M, Park M, Mihalek I, et al. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia 2019; 60:406-418.
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