PRRT2 mutations: exploring the phenotypical boundaries

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

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

Homozygous c.649dupC mutation inPRRT2worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

(2012) Angelo Labate et al.   EPILEPSIA

PRRT2 Mutations are the major cause of benign familial infantile seizures

(2012) Julian Schubert et al.   HUMAN MUTATION

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

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

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec 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

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

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

Mutations inPRRT2result in paroxysmal dyskinesias with marked variability in clinical expression

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

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