KEGG   VARIANT: 4905v1
Entry
4905v1                      Variant                                
Name
NSF mutation
Type
Loss of function
Gene
NSF  N-ethylmaleimide sensitive factor, vesicle fusing ATPase [KO:K06027]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601633
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
PMID:31675180
  Authors
Suzuki H, Yoshida T, Morisada N, Uehara T, Kosaki K, Sato K, Matsubara K, Takano-Shimizu T, Takenouchi T
  Title
De novo NSF mutations cause early infantile epileptic encephalopathy.
  Journal
Ann Clin Transl Neurol 6:2334-2339 (2019)
DOI:10.1002/acn3.50917
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