The evolving spectrum ofPRRT2-associated paroxysmal diseases

Episodic and Electrical Nervous System Disorders Caused by Nonchannel Genes

(2015) Hsien-yang Lee et al.   Annual Review of Physiology

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

(2015) Ellen Hanson et al.   BIOLOGICAL PSYCHIATRY

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

(2015) Bronwyn E. Grinton et al.   EPILEPSIA

Novel mutations inATP1A3associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

(2015) Alex R. Paciorkowski et al.   EPILEPSIA

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

(2015) Ming Li et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Severe phenotypic spectrum of biallelic mutations inPRRT2gene

(2015) Marion Delcourt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Migraine pathophysiology: lessons from mouse models and human genetics

(2015) Michel D Ferrari et al.   LANCET NEUROLOGY

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

(2015) Matthew T. Sweney et al.   PEDIATRIC NEUROLOGY

Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis

(2015) Yiguo Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Benefit of carbamazepine in a patient with hemiplegic migraine associated withPRRT2mutation

(2014) Russell C Dale et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene

(2014) Rosa Guerrero-López et al.   EPILEPSY RESEARCH

Thalamic involvement in paroxysmal kinesigenic dyskinesia: A combined structural and diffusion tensor MRI analysis

(2014) Ji Hyun Kim et al.   HUMAN BRAIN MAPPING

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

(2014) Eva M. Reinthaler et al.   HUMAN MOLECULAR GENETICS

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

(2014) Zheng-Wen He et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome

(2014) L. M. Zhang et al.   JOURNAL OF CHILD NEUROLOGY

Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation

(2014) Jinyoung Youn et al.   Journal of Clinical Neurology

Genotype–phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases

(2014) Cheng-yuan Mao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

(2014) Roberto Erro et al.   MOVEMENT DISORDERS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Child Neurology: PRRT2-associated movement disorders and differential diagnoses

(2014) D. Ebrahimi-Fakhari et al.   NEUROLOGY

PRRT2 and hemiplegic migraine: A complex association

(2014) N. Pelzer et al.   NEUROLOGY

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia

(2014) Li Wu et al.   PARKINSONISM & RELATED DISORDERS

Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

(2014) Guillaume Huguet et al.   PLoS One

Episodic Neurologic Disorders: Syndromes, Genes, and Mechanisms

(2013) Jonathan F. Russell et al.   Annual Review of Neuroscience

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

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

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

(2013) Carlo Fusco et al.   BRAIN & DEVELOPMENT

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia withPRRT2gene mutations

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

Reduced SNAP-25 alters short-term plasticity at developing glutamatergic synapses

(2013) Flavia Antonucci et al.   EMBO REPORTS

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

PRRT2mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China

(2013) Y. P. Chen et al.   EUROPEAN 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

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

(2013) Sarah E Heron et al.   JOURNAL OF MEDICAL GENETICS

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

(2013) Felicitas Becker et al.   JOURNAL OF NEUROLOGY

PRRT2 mutations: exploring the phenotypical boundaries

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

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome

(2013) Axel Weber et al.   NEUROGENETICS

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

(2013) H.-F. Li et al.   NEUROLOGY

Neurotransmitter Release: The Last Millisecond in the Life of a Synaptic Vesicle

(2013) Thomas C. Südhof   NEURON

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

SNARE Proteins Synaptobrevin, SNAP-25, and Syntaxin Are Involved in Rapid and Slow Endocytosis at Synapses

(2013) Jianhua Xu et al.   Cell Reports

Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia

(2013) Saurav Guha   JAMA Psychiatry

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

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

(2012) Kang Wang et al.   BRAIN & DEVELOPMENT

Epileptiform Activity and Cognitive Deficits in SNAP-25+/− Mice are Normalized by Antiepileptic Drugs

(2012) Irene Corradini et al.   CEREBRAL CORTEX

PRRT2c.649dupC Mutation Derived fromDe Novoin Paroxysmal Kinesigenic Dyskinesia

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

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

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

(2012) Angelo Labate et al.   EPILEPSIA

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

(2012) Claudia Castiglioni 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

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

(2012) Hsien-yang Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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 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 mutations cause hemiplegic migraine

(2012) F. Riant et al.   NEUROLOGY

High-Resolution Proteomics Unravel Architecture and Molecular Diversity of Native AMPA Receptor Complexes

(2012) Jochen Schwenk et al.   NEURON

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

A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis

(2012) Eun Joo Chung 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

CSPα knockout causes neurodegeneration by impairing SNAP-25 function

(2011) Manu Sharma et al.   EMBO JOURNAL

Mutations inPRRT2result in paroxysmal dyskinesias with marked variability in clinical expression

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

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

(2011) Daniah Trabzuni et al.   JOURNAL OF NEUROCHEMISTRY

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

(2011) Michael Bjørn Russell et al.   LANCET NEUROLOGY

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

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

Clinical/Scientific Notes

(2011) R. C. Dale et al.   NEUROLOGY

Alteration of Ictal and Interictal Perfusion in Patients with Paroxysmal Kinesigenic Dyskinesia

(2011) Y.-D Kim et al.   NEUROPEDIATRICS

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

Endogenous SNAP-25 Regulates Native Voltage-gated Calcium Channels in Glutamatergic Neurons

(2010) Steven B. Condliffe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurological channelopathies: new insights into disease mechanisms and ion channel function

(2010) Dimitri M. Kullmann et al.   JOURNAL OF PHYSIOLOGY-LONDON

CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity

(2010) Manu Sharma et al.   NATURE CELL BIOLOGY

Bilateral Striopallidodentate Calcinosis With Paroxysmal Kinesigenic Dyskinesia

(2010) Gloria E. Diaz et al.   PEDIATRIC NEUROLOGY

Paroxysmal Kinesigenic Dyskinesias and Pseudohypo-parathyroidism Type Ib

(2010) Katherine P. Thomas et al.   PEDIATRIC NEUROLOGY

The thalamic ultrastructural abnormalities in paroxysmal kinesigenic choreoathetosis: a diffusion tensor imaging study

(2009) Bo Zhou et al.   JOURNAL OF NEUROLOGY

16p11.2-RELATED PAROXYSMAL KINESIGENIC DYSKINESIA AND DOPA-RESPONSIVE PARKINSONISM IN A CHILD

(2009) J. Lipton et al.   NEUROLOGY

Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

(2009) Matthew B. Johnson et al.   NEURON

Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: A new subtype?

(2008) Jinxia Zhou et al.   EPILEPSY RESEARCH

Epidemiology and comorbidity of headache

(2008) Rigmor Jensen et al.   LANCET NEUROLOGY

Possible post-traumatic paroxysmal kinesigenic dyskinesia

(2008) Valentina Chiesa et al.   MOVEMENT DISORDERS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

GeneMANIA: a real-time multiple association network integration algorithm for predicting gene function

(2008) Sara Mostafavi et al.   GENOME BIOLOGY