GNAO1 encephalopathy: management
Evidence-based neurology checklist on gnao1 encephalopathy: management: Brain magnetic resonance imaging (MRI): features Thin corpus callosum Dilated ventricles Hypoplastic caudate nuclei Cerebral atrophy Diffuse astrocytoma in one case Restricted diffusion during exacerbations…
Brain magnetic resonance imaging (MRI): features
- Thin corpus callosum
- Dilated ventricles
- Hypoplastic caudate nuclei
- Cerebral atrophy
- Diffuse astrocytoma in one case
- Restricted diffusion during exacerbations
Electroencephalogram (EEG): features
Treatment
References
- 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.
- Waak M, Mohammad SS, Coman D, et al. GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. JNNP 2017; pii: jnnp-2017-315653 (Epub ahead of print).
- Kobayashi Y, Tohyama J, Kato M, et al. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. Brain Dev 2016; 38:285-292.
- Moseley BD, Dhamija R, Wirrell EC, Nickels KC. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatr Neurol 2012; 46:101-105.
- 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.
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