Fig. 2From: Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature reviewMolecular analysis of ROGDI missense variants. A Normal ROGDI protein structure. B c.286C > T/p. Gln96Ter, the peptide chain terminates at Gln96. C c.402C > G/p. Tyr134Ter, the peptide chain terminates at Tyr134. D c.469C > T/p. Arg157Ter, the peptide chain terminates at Arg157Back to article page