KEGG   VARIANT: 85358v1
Entry
85358v1                      Variant                               
Name
SHANK3 mutation
Type
Loss of function
Gene
SHANK3  SH3 and multiple ankyrin repeat domains 3 [KO:K15009]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606230
Network
nt06544  Neuroactive ligand signaling
Disease
H01238  Phelan-McDermid syndrome
H01649  Schizophrenia
Reference
  Authors
Holder JL Jr, Quach MM
  Title
The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.
  Journal
Epilepsia 57:1651-1659 (2016)
DOI:10.1111/epi.13506
Reference
  Authors
Costales JL, Kolevzon A
  Title
Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.
  Journal
Neurotherapeutics 12:620-30 (2015)
DOI:10.1007/s13311-015-0352-z
Reference
  Authors
Gauthier J, Champagne N, Lafreniere RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Cote M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Neri C, Dube MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA
  Title
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
  Journal
Proc Natl Acad Sci U S A 107:7863-8 (2010)
DOI:10.1073/pnas.0906232107
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