Table 2. Phenotype–Genotype Correlations of ATP1A3-related Disorders.
| RDP | I | AHC | I | CAPOS |
|---|---|---|---|---|
| I274T, E277K, 327Ldel, T370N, W382R, L417P, T613M, S684F, R756H, I758S, F780L, D810Y, D923N | D801N1, G867D, D923N, E951K1 | S137Y, S137F, Q140L, I274N, E277K, V322D, C333F, T335P, G358C, L371P, G755A, G755S, G755C, L757P, T771N, S772R, N773S, N773I, D801E, D801N, T804I, D805E, M806R, I810F, I810S, S811P, E815K, 2542+1G>A (splice site), 919Vdel, D923N, D923Y, C927Y, C927F, C927W, G947R (2839G>A and 2839G>C), A955D, D992Y, 1013Ydup | E818K | E818K |
AHC, Alternating Hemiplegia of Childhood; CAPOS, Cerebellar ataxia, Areflexia, Pes Cavus Optic Atrophy, and Sensorineural Hearing Loss; RDP, Rapid-onset Dystonia–Parkinsonism.
The table demonstrates genotypes reported in the literature that are related to each phenotype classified into typical RDP, typical AHC, typical CAPOS syndrome, shown in pink, green, and blue, respectively.5,6,21,26–29 Intermediate (I) forms between each phenotype are shown in grey. Amino acid code alterations are shown in order of the codons.
1
Mutations in our cases.