(Q37457457)

20 August 2017

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects (English)

1 reference

20 August 2017

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Yo-Tsen Liu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Fang-Shin Nian

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Wan-Ju Chou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Chin-Yin Tai

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Shang-Yeong Kwan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Chien Chen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Pei-Wen Kuo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Po-Hsi Lin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Chin-Yi Chen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Chia-Wei Huang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Yi-Chung Lee

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Bing-Wen Soong

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

language of work or name

English

0 references

publication date

9 May 2016

1 reference

20 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

issue

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

39184-39196

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

6 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5129924/fullTextXML

inferred from PubMed Central ID database lookup

cites work

The clinical and genetic heterogeneity of paroxysmal dyskinesias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Experience-dependent plasticity of dendritic spines of layer 2/3 pyramidal neurons in the mouse cortex.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Differences in AMPA and kainate receptor interactomes facilitate identification of AMPA receptor auxiliary subunit GSG1L

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Dendritic spine pathology in neuropsychiatric disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Dual subcellular roles for LIS1 and dynein in radial neuronal migration in live brain tissue

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Structure-stability-function relationships of dendritic spines

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Neurons derived from radial glial cells establish radial units in neocortex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

The rat brain postsynaptic density fraction contains a homolog of the Drosophila discs-large tumor suppressor protein

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Episodic movement disorders: from phenotype to genotype and back

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

PRRT2 mutations and paroxysmal disorders.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Localization of synaptic input on dendrites of a lamprey spinal cord neurone from physiological measurements of membrane properties

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Activity-regulated N-cadherin endocytosis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

Efficient in utero gene transfer system to the developing mouse brain using electroporation: visualization of neuronal migration in the developing cortex

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5129924

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

2 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Efficient gene transfer into the embryonic mouse brain using in vivo electroporation

1 reference

12 December 2020

Distribution of electrotonic synapses on identified lamprey neurons: a comparison of a model prediction with an electron microscopic analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.18632/ONCOTARGET.9258

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172900%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PubMed publication ID

27172900

1 reference