Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
Mantuano
Elide
E
Veneziano
Liana
L
D000409:Alanine / Q000235:genetics; D001259:Ataxia / Q000235:genetics*; D015220:Calcium Channels / Q000737:chemistry / Q000235:genetics*; D018450:Disease Progression; D006801:Humans; D009154:Mutation; D017434:Protein Structure, Tertiary / Q000235:genetics; D013912:Threonine / Q000235:genetics; D020864:Calcium Channels, N-Type
D000409:Alanine; D015220:Calcium Channels; D013912:Threonine; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type