Aeby A et al.SCN1B-linked early infantile developmental and epileptic encephalopathy. Ann Clin Transl Neurol. 2019;6(12):2354-2367. doi:10.1002/acn3.50921. PMID: 31709768.
Audenaert D et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.Neurology. 2003;61(6):854-856. doi:10.1212/01.wnl.0000080362.55784.1c PMID: 14504340.
Berto S et al.Association between resting-state functional brain connectivity and gene expression is altered in autism spectrum disorder. Nat Commun 13, 3328 (2022). https://doi.org/10.1038/s41467-022-31053-5. PMID: 35680911.
Brugada R et al.Identification of a genetic locus for familial atrial fibrillation.N Engl J Med. 1997;336(13):905-911. doi:10.1056/NEJM199703273361302. PMID: 9070470.
Dang LT et al. Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant. Pediatr Neurol. 2020;108:121-122. doi:10.1016/j.pediatrneurol.2020.03.012. PMID: 32303391.
Entry - *600235 - sodium voltage-gated channel, beta subunit 1; SCN1B - OMIM. (n.d.). https://omim.org/entry/600235
Ramadan W et al.Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.Clin Genet. 2017;92(3):327-331. doi:10.1111/cge.12999. PMID: 28218389.
Scheffer IE et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain. 2007;130(1):100–109. https://doi.org/10.1093/brain/awl272. PMID: 17020904.
Zhu Z et al.SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy. Children. 2022; 9(10):1507. https://doi.org/10.3390/children9101507. PMID: 36291443.