KEGG   VARIANT: 10021v1
Entry
10021v1                      Variant                               
Name
HCN4 mutation
Type
Loss of function
Gene
HCN4  potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 [KO:K04957]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605206
Network
nt06544  Neuroactive ligand signaling
Disease
H00808  Idiopathic generalized epilepsies
Reference
PMID:30127718
  Authors
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D
  Title
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
  Journal
Front Mol Neurosci 11:269 (2018)
DOI:10.3389/fnmol.2018.00269
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