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

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

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

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

(2012) RUSSELL C DALE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study

(2012) RUSSELL C DALE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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: 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 mutations cause hemiplegic migraine

(2012) F. Riant 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

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

Paroxysmal dyskinesias

(2011) Kailash P. Bhatia   MOVEMENT DISORDERS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

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