Property Summary

NCBI Gene PubMed Count 91
Grant Count 16
R01 Count 9
Funding $535,661.22
PubMed Score 301.47
PubTator Score 725.39

Knowledge Summary

Patent

No data available

Expression

 MGI Term (1)

Gene RIF (77)

PMID Text
26936445 a novel intronic PRRT2 mutation causes paroxysmal kinesigenic dyskinesia with infantile convulsions
26829736 649dupC frameshift mutation of the PRRT2 gene is associated paroxysmal kinesigenic dyskinesia.
26598494 study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders.
26598493 comprehensive review of PRRT2-associated diseases.
26561923 In this study, 20 probands with BPEI were negative for family history of BPEI and negative for PRRT2 mutation.
26446061 PRRT2 mutations are common in patients with paroxysmal kinesigenic dyskinesia (PKD) and are associated with an earlier age at onset, longer duration of attacks, combined phenotypes of dystonia and chorea, and a tendency for a family history of PKD.
26384010 we found three new mutations in PRTTS in patients with Paroxysmal Kinesigenic Dyskinesia: c.insT27 p.Ser9*, c.G967A p.Gly323Arg and c.delCA215_216 p.Thr72Argfs*62.
25915028 mutant PRRT2, probably through its weakened interaction with SNAP25, affects glutamate signaling and glutamate receptor activity, resulting in the increase of glutamate release and subsequent neuronal hyperexcitability.
25595153 phenotypic spectrum of biallelic mutations
25522171 PRRT2 variants were probably involved in the etiology of febrile seizures in epileptic patients.
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AA Sequence

MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPE      1 - 70
TTETPAGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAP     71 - 140
QPDPRPDSQPTPKPALQPELPTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPP    141 - 210
ANGAPPRVLQQLVEEDRMRRAHSGHPGSPRGSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPM    211 - 280
WPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK              281 - 340
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Text Mined References (91)

PMID Year Title
26936445 2016 Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family.
26829736 2016 [Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia].
26797119 2016 A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.
26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.
26598493 2015 The evolving spectrum of PRRT2-associated paroxysmal diseases.
26561923 2015 Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.
26446061 2015 Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
26384010 2016 Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.
25915028 2015 PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.
25595153 2015 Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
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