Bainbridge Ropers syndrome (BRPS): clinical features
Evidence-based neurology checklist on bainbridge ropers syndrome (brps): clinical features: Genetics This is caused by mutations in the ASXL3 gene The gene regulates transcription Dysmorphic appearance Developmental features Epilepsy Abnormal movements Other congenital abnormalities Other features…
Genetics
- This is caused by mutations in the ASXL3 gene
- The gene regulates transcription
Dysmorphic appearance
Developmental features
Epilepsy
Abnormal movements
Other congenital abnormalities
Other features
Magnetic resonance imaging (MRI) brain: features
Electroencephalogram (EEG): features
References
- Koboldt DC, Mihalic Mosher T, et al. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud 2018; pii: mcs.a002410 (Epub ahead of print).
- Myers KA, White SM, Mohammed S, et al. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Res 2018; 140:166-170.
- Kuechler A, Czeschik JC, Graf E, et al. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet 2017; 25:183-191.
- Balasubramanian M, Willoughby J, Fry AE, et al. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet 2017; 54:537-543.
- Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA. Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. Neurol Genet 2017; 3:e189.
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