VARIANT: 773v2
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Entry
773v2 Variant
Name
CACNA1A mutation
Type
Loss of function
Gene
CACNA1A
calcium voltage-gated channel subunit alpha1 A [KO:
K04344
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
601011
Network
nt06528
Calcium signaling
nt06544
Neuroactive ligand signaling
Disease
H00606
Early infantile epileptic encephalopathy
H00749
Episodic ataxias
Reference
PMID:
33985586
Authors
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Title
Calcium channelopathies and intellectual disability: a systematic review.
Journal
Orphanet J Rare Dis 16:219 (2021)
DOI:
10.1186/s13023-021-01850-0
Reference
PMID:
9302278
Authors
Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M
Title
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
Journal
Hum Mol Genet 6:1973-8 (1997)
DOI:
10.1093/hmg/6.11.1973
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