×
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