KEGG   VARIANT: 22906v1
Entry
22906v1                      Variant                               
Name
TRAK1 mutation
Type
Loss of function
Gene
TRAK1  trafficking kinesin protein 1 [KO:K15369]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608112
Network
nt06541  Cytoskeleton in neurons
Disease
H00606  Early infantile epileptic encephalopathy
Reference
PMID:28364549
  Authors
Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y
  Title
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
  Journal
Brain 140:568-581 (2017)
DOI:10.1093/brain/awx002
LinkDB

DBGET integrated database retrieval system