KEGG   VARIANT: 3786v1
Entry
3786v1                      Variant                                
Name
KCNQ3 mutation
Type
Loss of function
Gene
KCNQ3  potassium voltage-gated channel subfamily Q member 3 [KO:K04928]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602232
Network
nt06546  IgSF CAM signaling
Disease
H00806  Benign familial neonatal seizure
Reference
PMID:14534157
  Authors
Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF
  Title
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
  Journal
Brain 126:2726-37 (2003)
DOI:10.1093/brain/awg286
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