Vici syndrome
Evidence-based neurology checklist on vici syndrome: Genetics This is caused by mutations in the EPG5 gene on chromosome 18q The transmission is autosomal recessive It is possibly a glycogen storage disorder Diagnostic features Seizure types Other neurological features Ophthalmic features Skeletal…
Genetics
- This is caused by mutations in the EPG5 gene on chromosome 18q
- The transmission is autosomal recessive
- It is possibly a glycogen storage disorder
Diagnostic features
Seizure types
Other neurological features
Ophthalmic features
Skeletal features
Dermatological features
Systemic features
Differential diagnosis
Prognosis
Brain imaging features
Muscle biopsy: features
Other investigations
References
- Rogers RC, Aufmuth B, Monesson S. Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. Case Rep Genet 2011; 2011:421582.
- Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2013; 45:83-87.
- Byrne S, Jansen L, U-King-Im JM, et al. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016; 139:765-781.
- Vansenne F, Fock JM, Stolte-Dijkstra I, et al. Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. Eur J Paediatr Neurol 2022; 41:91-98.
- Mahjoubi F, Shabani S, Khakbazpour S, Khaligh Akhlaghi A. Novel EPG5 mutation associated with Vici syndrome gene. Case Rep Genet 2022; 2022:5452944.
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