Gene: PRRT2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia. 25457817 2014
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases. 24661410 2014
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR PRRT2 mutations are related to febrile seizures in epileptic patients. 25522171 2014
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE The identification of heterozygous mutations in the PRRT2 gene in paroxysmal kinesigenic dyskinesia as well as in benign familial infantile seizures linked episodic movement disorders with epilepsy. 23963607 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 24370076 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 23352743 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. 23398397 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. 23363396 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR PRRT2-related disorders: further PKD and ICCA cases and review of the literature. 23299620 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE We describe a family with paroxysmal kinesigenic dyskinesia associated with PRRT2 gene mutation, mild intrafamilial clinical heterogeneity, and benign course.[Published with video sequences]. 23771590 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE The family history of paroxysmal kinesigenic dyskinesia was more common in probands with PRRT2 mutations than in those without mutations. 23131349 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia. 23176561 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. 23182655 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GermlineCausalMutation disease ORPHANET In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. 23398397 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 22744660 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease CLINVAR Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE We have analysed the frequency of PRRT2 mutations in families with benign familial infantile convulsions without paroxysmal kinesigenic dyskinesia. 22877996 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR PRRT2 mutations cause hemiplegic migraine. 23077016 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. 22985072 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutations have recently been shown to cause various childhood-onset episodic syndromes including paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome, and benign familial infantile epilepsy. 23077016 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. 23077017 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. 22870186 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE Two probands had no family history of infantile seizures or paroxysmal kinesigenic dyskinesia and had de novo PRRT2 mutations. 23077018 2012