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

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia withPRRT2gene mutations

(2013) Laura Silveira-Moriyama et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP

(2013) Angelo Labate et al.   EPILEPSY RESEARCH

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

(2013) Felicitas Becker et al.   JOURNAL OF NEUROLOGY

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

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

(2012) Atsushi Ishii 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

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

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins

(2012) Claudia Castiglioni et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

PRRT2 is mutated in familial and non-familial benign infantile seizures

(2012) Nicola Specchio et al.   EUROPEAN JOURNAL OF PAEDIATRIC 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

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

PRRT2 mutation causes benign familial infantile convulsions

(2012) B. de Vries et al.   NEUROLOGY

PRRT2 mutations cause hemiplegic migraine

(2012) F. Riant et al.   NEUROLOGY

Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin

(2012) Teun W. van Strien 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

The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions

(2012) Ortrud K. Steinlein et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

Peri-ictal and inter-ictal headache in children and adolescents with idiopathic epilepsy: a multicenter cross-sectional study

(2011) Alberto Verrotti et al.   CHILDS NERVOUS SYSTEM

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

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Benign convulsions associated with mild gastroenteritis: A multicenter clinical study

(2010) Alberto Verrotti et al.   EPILEPSY RESEARCH

Norovirus Infection as a Cause of Diarrhea‐Associated Benign Infantile Seizures

(2009) Shih‐Yen Chen et al.   CLINICAL INFECTIOUS DISEASES