KEGG   VARIANT: 777v1
Entry
777v1                      Variant                                 
Name
CACNA1E mutation
Type
Gain of function
Gene
CACNA1E  calcium voltage-gated channel subunit alpha1 E [KO:K04852]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601013
Network
nt06528  Calcium signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
PMID:31064215
  Authors
Carvill GL
  Title
Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E.
  Journal
Epilepsy Curr 19:199-201 (2019)
DOI:10.1177/1535759719845324
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