PRRT2mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China

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

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

PRRT2 Mutations are the major cause of benign familial infantile seizures

(2012) Julian Schubert et al.   HUMAN MUTATION

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

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

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

(2012) Alexander J. A. Groffen et al.   JOURNAL OF NEUROLOGY

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 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

(2012) A. Meneret et al.   NEUROLOGY

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

(2012) A. R. Gardiner et al.   NEUROLOGY

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

(2012) R. van Vliet et al.   NEUROLOGY

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

(2012) Li Cao et al.   PARKINSONISM & RELATED DISORDERS

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

Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis

(2011) Jingyun Li et al.   JOURNAL OF MEDICAL GENETICS

Mutations inPRRT2result in paroxysmal dyskinesias with marked variability in clinical expression

(2011) Qing Liu et al.   JOURNAL OF MEDICAL GENETICS

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

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

Clinical feature and DYT1 mutation screening in primary dystonia patients from South-West China

(2010) S.-S. Zhang et al.   EUROPEAN JOURNAL OF NEUROLOGY