KEGG   VARIANT: 5530v1
Entry
5530v1                      Variant                                
Name
PPP3CA mutation
Type
Loss of function
Gene
PPP3CA  protein phosphatase 3 catalytic subunit alpha [KO:K04348]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114105
Network
nt06528  Calcium signaling
Disease
H00606  Early infantile epileptic encephalopathy
H02150  Infantile or early childhood epileptic encephalopathy
Reference
  Authors
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N
  Title
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
  Journal
Hum Mol Genet 27:1421-1433 (2018)
DOI:10.1093/hmg/ddy052
Reference
  Authors
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL
  Title
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
  Journal
Am J Hum Genet 101:516-524 (2017)
DOI:10.1016/j.ajhg.2017.08.013
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