Coffin Siris syndrome (CSS)
Evidence-based neurology checklist on coffin siris syndrome (css): BAF complex genetic mutations ARID1B: in about 50% of cases SMARCB1 SMARCA4 SMARCE1 ARID1A PHF6 DPF2 Non-BAF complex genetic mutations Other BAF complex disorders Developmental features Dysmorphic features Other neurological…
BAF complex genetic mutations
- ARID1B: in about 50% of cases
- SMARCB1
- SMARCA4
- SMARCE1
- ARID1A
- PHF6
- DPF2
Non-BAF complex genetic mutations
Other BAF complex disorders
Developmental features
Dysmorphic features
Other neurological features
Ophthalmic features
Systemic features
Electroencephalogram (EEG)
Synonym
References
- Proietti J, Amadori E, Striano P, et al. Epilepsy features in ARID1B-related Coffin-Siris syndrome. Epileptic Disord 2021; 23:865-874.
- Curcio MR, Ferranti S, Lotti F, Grosso S. Coffin-Siris syndrome and epilepsy. Neurol Sci 2021; 42:727-729.
- Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet 2014; 166C:262-275.
- Vasileiou G, Vergarajauregui S, Endele S, et al. Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome. Am J Hum Genet 2018; 102:468-479.
- Kosho T, Miyake N, Carey JC. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. Am J Med Genet C Semin Med Genet 2014; 166C:241-251.
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