(Q38644996)

5 September 2017

The evolving spectrum of PRRT2-associated paroxysmal diseases (English)

1 reference

5 September 2017

2

1 reference

5 September 2017

4

Christine Klein

1 reference

5 September 2017

Darius Ebrahimi-Fakhari

series ordinal

1

1 reference

PubMed ID

26598493

5 September 2017

Ana Westenberger

series ordinal

3

1 reference

PubMed ID

26598493

5 September 2017

language of work or name

English

0 references

publication date

23 November 2015

1 reference

5 September 2017

1 reference

5 September 2017

138

1 reference

5 September 2017

3476-3495

1 reference

5 September 2017

Pt 12

1 reference

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

5 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Diagnostic clinical genome and exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Alpha-synuclein cooperates with CSPalpha in preventing neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Possible post-traumatic paroxysmal kinesigenic dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Endogenous SNAP-25 regulates native voltage-gated calcium channels in glutamatergic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Epileptiform activity and cognitive deficits in SNAP-25(+/-) mice are normalized by antiepileptic drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Paroxysmal dyskinesias: clinical features and classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Bilateral striopallidodentate calcinosis with paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutations: exploring the phenotypical boundaries.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Migraine pathophysiology: lessons from mouse models and human genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Moyamoya‐induced paroxysmal dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Implication of a rare deletion at distal 16p11.2 in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutations are related to febrile seizures in epileptic patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Epidemiology and comorbidity of headache

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Functional and evolutionary insights into human brain development through global transcriptome analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Spatio-temporal transcriptome of the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Episodic and electrical nervous system disorders caused by nonchannel genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Paroxysmal kinesigenic choreoathetosis: Report of a case relieved by L-dopa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutation in Japanese children with benign infantile epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Activity-dependent phosphorylation of Ser187 is required for SNAP-25-negative modulation of neuronal voltage-gated calcium channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Hemiageusia: an unusual presentation of multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Episodic neurologic disorders: syndromes, genes, and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

CSPα knockout causes neurodegeneration by impairing SNAP-25 function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutations are the major cause of benign familial infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

High-resolution proteomics unravel architecture and molecular diversity of native AMPA receptor complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Clinical whole exome sequencing in child neurology practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

A human protein-protein interaction network: a resource for annotating the proteome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Neurotransmitter release: the last millisecond in the life of a synaptic vesicle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Paroxysmal kinesigenic dyskinesias and pseudohypo-parathyroidism type Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

The genetic spectrum of a population-based sample of familial hemiplegic migraine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

SNARE proteins synaptobrevin, SNAP-25, and syntaxin are involved in rapid and slow endocytosis at synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV317

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWV317

1 reference

5 September 2017

1 reference

PubMed ID

26598493