KEGG   VARIANT: 348980v1
Entry
348980v1                      Variant                              
Name
HCN1 mutation
Type
Loss of function
Gene
HCN1  hyperpolarization activated cyclic nucleotide gated potassium channel 1 [KO:K04954]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602780
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
H02564  Generalized epilepsy with febrile seizures plus
Reference
  Authors
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerova J, Lassuthova P, Sterbova K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C
  Title
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
  Journal
Brain 141:3160-3178 (2018)
DOI:10.1093/brain/awy263
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