KEGG   VARIANT: 775v1
Entry
775v1                      Variant                                 
Name
CACNA1C mutation
Type
Loss of function
Gene
CACNA1C  calcium voltage-gated channel subunit alpha1 C [KO:K04850]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114205
Network
nt06528  Calcium signaling
Disease
H00728  Brugada syndrome
H02856  Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Reference
  Authors
Chen L, He Y, Wang X, Ge J, Li H
  Title
Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.
  Journal
Clin Transl Med 11:e530 (2021)
DOI:10.1002/ctm2.530
Reference
  Authors
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C
  Title
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
  Journal
Circulation 115:442-9 (2007)
DOI:10.1161/CIRCULATIONAHA.106.668392
Reference
  Authors
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V
  Title
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
  Journal
Genet Med 23:1922-1932 (2021)
DOI:10.1038/s41436-021-01232-8
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