Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

Unusual variability of PRRT2 linked phenotypes within a family

(2014) Frieder Brueckner et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Re-evaluation of PRRT2 mutations in paroxysmal disorders

(2014) Xia Nan Guo et al.   JOURNAL OF NEUROLOGY

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

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

EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease

(2013) Lamei Yuan et al.   NEUROSCIENCE LETTERS

Novel HCN2 Mutation Contributes to Febrile Seizures by Shifting the Channel's Kinetics in a Temperature-Dependent Manner

(2013) Yuki Nakamura et al.   PLoS One

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 mutation in Japanese children with benign infantile epilepsy

(2012) Akihisa Okumura et al.   BRAIN & DEVELOPMENT

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

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

NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

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

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

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

(2012) Una-Marie Sheerin 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 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

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

(2011) Annick Salzmann et al.   HUMAN MUTATION

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

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

(2010) S. A. Mullen et al.   NEUROLOGY

The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures

(2009) Douglas E Crompton et al.   LANCET NEUROLOGY

Genetics of epilepsy syndromes starting in the first year of life

(2009) L. Deprez et al.   NEUROLOGY

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

(2008) A. Suls et al.   BRAIN