PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 GeneticVariation disease CLINVAR
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 22744660 2012
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 22399141 2012
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 GeneticVariation disease BEFREE Furthermore, no other genomic alteration that would directly cause the ICCA syndrome in those nine families was detected in the ICCA critical area. 21060786 2010
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 GeneticVariation disease BEFREE To characterise the phenotype of a family with paroxysmal exercise induced dystonia (PED) and migraine and establish whether it is linked to the paroxysmal non-kinesigenic dyskinesia (PNKD) locus on chromosome 2q33-35, the familial hemiplegic migraine (FHM) locus on chromosome 19p, or the familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome) locus on chromosome 16. 10766892 2000
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 Biomarker disease BEFREE PKC and a related disorder in which infantile convulsions are associated (ICCA syndrome) have recently been linked to the pericentromic region of chromososme 16 in the vicinity of some ion channel genes. 11346027 2001
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 GeneticVariation disease UNIPROT Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103 2012