Mapping genetic modifiers of survival in a mouse model of Dravet syndrome (Q30572370)

21 August 2017

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome (English)

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21 August 2017

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4

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PubMed publication ID

24 June 2017

A R Miller

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21 August 2017

N A Hawkins

series ordinal

2

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21 August 2017

C E McCollom

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3

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21 August 2017

language of work or name

English

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publication date

14 November 2013

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Genes, Brain and Behavior

21 August 2017

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21 August 2017

13

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21 August 2017

2

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21 August 2017

163-172

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Sudden unexpected death in a mouse model of Dravet syndrome

21 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

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=3930200

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

GABAA Receptor Subunit Mutations and Genetic Epilepsies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

The relevance of individual genetic background and its role in animal models of 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=3930200

LGI2 truncation causes a remitting focal epilepsy in dogs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Dravet syndrome: the long-term outcome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Improving RNA-Seq expression estimates by correcting for fragment bias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Epilepsy and the new cytogenetics

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

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=3930200

Galaxy: a web-based genome analysis tool for experimentalists

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

A functional null mutation of SCN1B in a patient with Dravet syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

TopHat: discovering splice junctions with RNA-Seq

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Dravet syndrome or genetic (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=3930200

Accurate whole human genome sequencing using reversible terminator chemistry

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Chemoconvulsant-induced seizure susceptibility: toward a common genetic basis?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Evidence from gene knockout studies implicates Asc-1 as the primary transporter mediating d-serine reuptake in the mouse CNS

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Use of chromosome substitution strains to identify seizure susceptibility loci 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=3930200

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Calcium channel alpha2-delta type 1 subunit is the major binding protein for pregabalin in neocortex, hippocampus, amygdala, and spinal cord: an ex vivo autoradiographic study in alpha2-delta type 1 genetically modified 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=3930200

Fine mapping of a sedative-hypnotic drug withdrawal locus on mouse chromosome 11

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental 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=3930200

Sodium channel mutations in epilepsy and other neurological 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=3930200

Severe myoclonic epilepsy in infancy: Dravet syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Mapping quantitative trait loci in the case of a spike in the phenotype distribution.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Calcium channel defects in models of inherited generalized 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=3930200

Experimental models of multifactorial epilepsies: the EL mouse and mice susceptible to audiogenic 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=3930200

Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Mapping mendelian factors underlying quantitative traits using RFLP linkage maps

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.

20 June 2018

1 reference

The SCN1A variant database: a novel research and diagnostic tool.

21 January 2018

1 reference

Altered GABAergic function accompanies hippocampal degeneration in mice lacking ClC-3 voltage-gated chloride channels

21 January 2018

1 reference

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

21 January 2018

1 reference

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

21 January 2018

1 reference

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome

21 January 2018

1 reference

Reeler homozygous mice exhibit enhanced susceptibility to epileptiform activity

21 January 2018

1 reference

Identification of novel transcripts in annotated genomes using RNA-Seq

21 January 2018

1 reference

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

21 January 2018

1 reference

Lack of the alanine-serine-cysteine transporter 1 causes tremors, seizures, and early postnatal death in mice.

21 January 2018

1 reference

Protective role of ATP-sensitive potassium channels in hypoxia-induced generalized seizure

21 January 2018

1 reference

Milder phenotype with SCN1A truncation mutation other than SMEI.

21 January 2018

1 reference

Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Mapping quantitative trait loci for seizure response to a GABAA receptor inverse agonist in mice.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3930200

Mapping murine loci for seizure response to kainic acid

26 November 2018

1 reference

12 December 2020

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

1 reference

12 December 2020

Quantitative trait locus for seizure susceptibility on mouse chromosome 5 confirmed with reciprocal congenic strains

1 reference

12 December 2020

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

1 reference

12 December 2020

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

1 reference

12 December 2020

The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression

1 reference

12 December 2020

Quantitative genetic study of maximal electroshock seizure threshold in mice: evidence for a major seizure susceptibility locus on distal chromosome 1

1 reference

12 December 2020

Identifiers

DOI

10.1111/GBB.12099

1 reference

21 August 2017

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21 August 2017

PubMed publication ID

24152123

1 reference