(Q40658656)

22 September 2017

Juvenile myoclonic epilepsy: is it an idiopathic epilepsy caused by a malformation of cortical development? (English)

1 reference

juvenile myoclonic epilepsy

22 September 2017

1 reference

1 reference

Michael Wong

1

1 reference

PMC publication ID

2873643

22 September 2017

language of work or name

English

0 references

publication date

1 May 2010

1 reference

22 September 2017

1 reference

22 September 2017

10

1 reference

22 September 2017

3

1 reference

22 September 2017

69-71

1 reference

EFHC1 interacts with microtubules to regulate cell division and cortical development

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

Mutations in EFHC1 cause juvenile myoclonic epilepsy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

Voxel-based morphometry in patients with idiopathic generalized epilepsies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873643

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

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20502595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20502595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neuropathological findings in primary generalized epilepsy: a study of eight cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20502595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1535-7511.2010.01360.X

1 reference

22 September 2017

1 reference

PMC publication ID

2873643

22 September 2017

PubMed publication ID

20502595

1 reference

PMC publication ID

2873643