KEGG   VARIANT: 8912v1
Entry
8912v1                      Variant                                
Name
CACNA1H mutation
Type
Gain of function
Gene
CACNA1H  voltage-dependent T-type calcium channel subunit alpha-1H isoform a [KO:K04855]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607904
Network
nt06316  Renin-angiotensin-aldosterone signaling
nt06528  Calcium signaling
Disease
H00808  Idiopathic generalized epilepsies
H01603  Primary aldosteronism
Reference
  Authors
Dutta RK, Soderkvist P, Gimm O
  Title
Genetics of primary hyperaldosteronism.
  Journal
Endocr Relat Cancer 23:R437-54 (2016)
DOI:10.1530/ERC-16-0055
Reference
  Authors
Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP
  Title
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
  Journal
Elife 4:e06315 (2015)
DOI:10.7554/eLife.06315
Reference
  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
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