GNAO1 encephalopathy: differential diagnosis
Evidence-based neurology checklist on gnao1 encephalopathy: differential diagnosis: Disorders causing seizures and movement disorders Intra-uterine stroke Creatine biosynthesis defects Glutaric acidemia type I Cerebral folate deficiency Mitochondrial diseases Dyskinetic cerebral palsy Disorders…
Disorders causing seizures and movement disorders
- Intra-uterine stroke
- Creatine biosynthesis defects
- Glutaric acidemia type I
- Cerebral folate deficiency
- Mitochondrial diseases
- Dyskinetic cerebral palsy
Disorders causing encephalopathy and movement disorders
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.
- Cellini E, Vignoli A, Pisano T, et al; FOXG1 Syndrome Study Group. The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. Dev Med Child Neurol 2016; 58:93-97.
- Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology 2016; 86:954-962.
- And 7 more. Subscribe to see the full list
