(Q27301367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Shigeyoshi Itohara

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Kazunobu Sawamoto

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

Antonio V Delgado-Escueta

19 January 2020

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Kazuhiro Yamakawa

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Hiroyuki Miyamoto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Takashi Nakahari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Ikuyo Inoue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Takahiro Suemoto

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Bin Jiang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Yuki Hirota

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Takaomi C Saido

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Tadaharu Tsumoto

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Takao K Hensch

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

15 January 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

1099-1109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

19 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4817086/fullTextXML

inferred from PubMed Central ID database lookup

cites work

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

1 reference

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 March 2017

1 reference

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Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

21 March 2017

1 reference

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

21 March 2017

1 reference

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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 March 2017

1 reference

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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Mutations in Hydin impair ciliary motility in mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Aberrant seizure-induced neurogenesis in experimental temporal lobe epilepsy

28 September 2017

1 reference

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Pentylenetetrazole-induced inhibition of recombinant gamma-aminobutyric acid type A (GABA(A)) receptors: mechanism and site of action

28 September 2017

1 reference

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Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Heat shock transcription factor 1 is required for maintenance of ciliary beating in mice.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.

28 November 2018

1 reference

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New neurons follow the flow of cerebrospinal fluid in the adult brain

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

19F and 1H MRI detection of amyloid beta plaques in vivo

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Deficient cortical development in the hydrocephalic Texas (H-Tx) rat: a role for CSF.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Prevalence of epilepsy in rural Bolivia: a door-to-door survey

28 November 2018

1 reference

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Juvenile myoclonic epilepsy: a 5-year prospective study

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Juvenile myoclonic epilepsy of Janz.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817086

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19147686

12 December 2020

inferred from PubMed ID database lookup

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19147686

12 December 2020

inferred from PubMed ID database lookup

Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19147686

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDP006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

19 January 2020

1552439

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1552439

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19147686%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

19147686

1 reference