Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development (Q24297551)

GOA release 2020-03-11

myoclonic epilepsy

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juvenile myoclonic epilepsy

inferred from title

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6

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author name string

Laurence de Nijs

1

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Nathalie Wolkoff

2

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Bernard Coumans

3

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Antonio V Delgado-Escueta

4

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Thierry Grisar

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

5

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language of work or name

English

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publication date

1 December 2012

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published in

Human Molecular Genetics

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volume

21

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issue

23

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page(s)

5106-17

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Advances in genetics of juvenile myoclonic epilepsies

19 March 2017

1 reference

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Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

19 March 2017

1 reference

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Neuronal migration mechanisms in development and disease

19 March 2017

1 reference

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Mutations in EFHC1 cause juvenile myoclonic epilepsy

19 March 2017

1 reference

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Modes of neuronal migration in the developing cerebral cortex

19 March 2017

1 reference

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A critical function for beta-amyloid precursor protein in neuronal migration revealed by in utero RNA interference

19 March 2017

1 reference

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A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Strategies for analyzing neuronal progenitor development and neuronal migration in the developing cerebral cortex

19 March 2017

1 reference

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27 September 2017

1 reference

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EFHC1 interacts with microtubules to regulate cell division and cortical development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Modes and mishaps of neuronal migration in the mammalian brain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Trekking across the brain: the journey of neuronal migration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

From genes to behavior in developmental dyslexia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Structural brain abnormalities in juvenile myoclonic epilepsy patients: volumetry and voxel-based morphometry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

The multipolar stage and disruptions in neuronal migration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Cytoskeletal coordination during neuronal migration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Early regionalisation of the neocortex and the medial ganglionic eminence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Nucleokinesis in neuronal migration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Patterns of neuronal migration in the embryonic cortex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Cell migration in the forebrain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Nucleokinesis in tangentially migrating neurons comprises two alternating phases: forward migration of the Golgi/centrosome associated with centrosome splitting and myosin contraction at the rear.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Distribution of EFHC1 or Myoclonin 1 in mouse neural structures.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Voxel-based morphometry in patients with idiopathic generalized epilepsies.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Heterotopia formation in rat but not mouse neocortex after RNA interference knockdown of DCX.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Constructing circuits: neurogenesis and migration in the developing neocortex

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

Juvenile myoclonic epilepsy of Janz.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490517

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

29 November 2018

1 reference

12 December 2020

Regional grey matter abnormalities in juvenile myoclonic epilepsy: a voxel-based morphometry study

1 reference

12 December 2020

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020