Scn8a^med-jo

A transition point mutation that altered coding nucleotide 3949 from G-to-A, which replaces the alanine at residue 1317 with threonine (p.A1317T). The mutation is located in a region of the ion channel that is predicted to encode the cytoplasmic linker between integral membrane segments S4 and S5 in domain III. (J:35567)