Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy (Q30611022)

19 October 2017

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy (English)

1 reference

19 October 2017

Jacy L Wagnon

1

1 reference

19 October 2017

Matthew J Korn

2

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19 October 2017

Rachel Parent

3

1 reference

19 October 2017

Taylor A Tarpey

4

1 reference

19 October 2017

Julie M Jones

5

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19 October 2017

Michael F Hammer

6

1 reference

19 October 2017

Geoffrey G Murphy

7

1 reference

19 October 2017

Jack M Parent

8

1 reference

19 October 2017

Miriam H Meisler

9

1 reference

19 October 2017

language of work or name

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16 September 2014

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19 October 2017

Human Molecular Genetics

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19 October 2017

24

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19 October 2017

506-515

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19 October 2017

2

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The phenotypic spectrum of SCN8A encephalopathy

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

De novo mutations in epileptic encephalopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Focal Scn1a knockdown induces cognitive impairment without seizures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Neurogenesis is enhanced and mossy fiber sprouting arises in FGF7-deficient mice during development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Automated apparatus for quantitation of social approach behaviors in mice.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU470

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU470

Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU470

Cell-type-dependent molecular composition of the axon initial segment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU470

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU470

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU470

Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU470

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

Functional specialization of the axon initial segment by isoform-specific sodium channel targeting.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275076

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

25 November 2018

1 reference

12 December 2020

Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study

1 reference

12 December 2020

Polarized distribution of ion channels within microdomains of the axon initial segment

1 reference

12 December 2020

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3

1 reference

12 December 2020

Immunolocalization of sodium channel isoform NaCh6 in the nervous system

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU470

1 reference

19 October 2017

1 reference

19 October 2017

1 reference