Aran A et al. Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. Neurology. 2017;88(11):1021-1028. PMID: 28188302.
Hakonen AH et al. SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. Am J Med Genet A. 2019;179(7):1362-1365. PMID: 31059209.
Lamond A et al. Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations. BMJ Case Rep. 2021;14(1):e237799. PMID: 33462016.
O'Grady Gl et al. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. 2016;87(14):1442-1448. PMID: 27590285.
Schwartz M et al. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. Am J Med Genet A. 2018;176(1):151-155. PMID: 29130637.
Publications describing mouse models with knockout or knockdown of SLC18A3:
de Castro BM et al. The vesicular acetylcholine transporter is required for neuromuscular development and function. Mol Cell Biol. 2009;29(19):5238-50. PMID: 19635813.
Joviano-Santos Jv et al. Motoneuron-specific loss of VAChT mimics neuromuscular defects seen in congenital myasthenic syndrome. FEBS J. 2021;288(18):5331-5349. PMID: 33730374.
SLC18A3