PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions

(2014) Heidi Ali et al.   HUMAN MUTATION

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

(2013) Xiaoling Yang et al.   BMC Neurology

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

(2013) Sarah E. Heron et al.   EPILEPSIA

PRRT2 mutations: exploring the phenotypical boundaries

(2013) T. Djemie et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Anticholinergic responsive cyclic myoclonus

(2013) Sheng-Han Kuo et al.   MOVEMENT DISORDERS

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

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

A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees

(2013) Xiang-Yi Jing et al.   PARKINSONISM & RELATED DISORDERS

Two Faces of the Same Coin: Benign Familial Infantile Seizures and Paroxysmal Kinesigenic Dyskinesia Caused by PRRT2 Mutations

(2012) Alexander Schmidt   ARCHIVES OF NEUROLOGY

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation

(2012) Kang Wang et al.   BRAIN & DEVELOPMENT

PRRT2c.649dupC Mutation Derived fromDe Novoin Paroxysmal Kinesigenic Dyskinesia

(2012) Hong-Fu Li et al.   CNS Neuroscience & Therapeutics

ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients

(2012) Jian Qu et al.   CNS Neuroscience & Therapeutics

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

(2012) Angelo Labate et al.   EPILEPSIA

Effect of dosage failed of first antiepileptic drug on subsequent outcome

(2012) Martin J. Brodie 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

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

(2012) J. Friedman 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 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

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

PRRT2 mutation causes benign familial infantile convulsions

(2012) B. de Vries 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

New concepts in classification of the epilepsies: Entering the 21st century

(2011) Anne T. Berg et al.   EPILEPSIA

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

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