Collagen 4 (COL4) mutation: neurological features
Evidence-based neurology checklist on collagen 4 (col4) mutation: neurological features: Onset features The onset may be antenatal or shortly after birth It may be delayed to later ages It may remain asymptomatic Developmental features Seizures Vascular features Other neurological features…
Onset features
- The onset may be antenatal or shortly after birth
- It may be delayed to later ages
- It may remain asymptomatic
Developmental features
Seizures
Vascular features
Other neurological features
Differential diagnosis
Synonym
References
- Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease. Stroke 2010; 41:e513-e518.
- Zagaglia S, Selch C, Nisevic JR, et al. Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease. Neurology 2018; 91:e2078-e2088.
- Meuwissen ME, Halley DJ, Smit LS, et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med 2015; 17:843-853.
- Boyce D, McGee S, Shank L, Pathak S, Gould D. Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry. Epilepsy Behav 2021; 125:108365.
- Gould DB, Phalan FC, Breedveld GJ, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005; 308:1167-1171.
