Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations

(2013) L. C. S. Tan et al.   EUROPEAN JOURNAL OF NEUROLOGY

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

(2013) Sarah E Heron et al.   JOURNAL OF MEDICAL GENETICS

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

(2013) H.-F. Li et al.   NEUROLOGY

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases

(2013) Jun-Ling Wang et al.   NEUROSCIENCE LETTERS

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

(2012) Peter Hedera et al.   BMC Neurology

NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

(2012) X.-R. Liu et al.   GENES BRAIN AND BEHAVIOR

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

(2012) Shinji Ono et al.   JOURNAL OF HUMAN GENETICS

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

(2012) I. E. Scheffer et al.   NEUROLOGY

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

(2012) C. Marini et al.   NEUROLOGY

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

(2012) Yi-Chung Lee et al.   PLoS One

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Les dyskinésies paroxystiques kinésigéniques : une « canalopathie » ? Étude de 19 cas

(2008) G. Fourcade et al.   REVUE NEUROLOGIQUE