KEGG   VARIANT: 774v1
Entry
774v1                      Variant                                 
Name
CACNA1B mutation
Type
Loss of function
Gene
CACNA1B  calcium voltage-gated channel subunit alpha1 B [KO:K04849]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601012
Network
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
Disease
H02859  Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Reference
PMID:30982612
  Authors
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA
  Title
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
  Journal
Am J Hum Genet 104:948-956 (2019)
DOI:10.1016/j.ajhg.2019.03.005
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