Table 2 Characteristics of group C individuals studied for ketonemia.
Subject number | Age at enrollment (years), gender | Phenotype | SLC2A1 variant | Previous treatments | Current treatment |
|---|---|---|---|---|---|
C1 | 6, M | Epilepsy, ID | c.880 T > C (p.Ser294Pro) | MAD | MAD |
C2 | 11, F | Epilepsy, apraxia, ID | c.940 G > A (p.Gly314Ser) | MAD | MAD |
C3 | 6, M | Epilepsy, ID | c.940 G > A (p.Gly314Ser) | KD | None |
C4 | 3, F | Epilepsy, ID | c.1198 C > T (p.Arg400Cys) | ASM | None |
C5 | 7, F | Epilepsy, ID | c.1199 G > A (p.Arg400His) | ASM | None |
C6 | 7, F | Epilepsy, ID | PET positive | ASM | None |
C7 | 2, F | Epilepsy, ID | c.1198 C > T (p.Arg400Cys) | KD | None |
