Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
Mantuano
E
E
Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy.
Veneziano
L
L
Spadaro
M
M
Giunti
P
P
Guida
S
S
Leggio
M G
MG
Verriello
L
L
Wood
N
N
Jodice
C
C
Frontali
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D020864:Calcium Channels, N-Type / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017386:Sequence Homology, Amino Acid
D020864:Calcium Channels, N-Type