These include the third so far described patients with FIBP-related Thauvin–Robinet–Faivre syndrome and LRP4-related congenital myasthenic syndrome, the third variant so far associated with SOD1-related spastic tetraplegia and axial hypotonia, and the first truncating variant associated with TUBB2A-related cortical dysplasia with other brain malformations. The gene discussed is TUBB2A; the disease is Congenital myasthenic syndromes.