Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13 (Q28588459)

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English	Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13	scientific journal article

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scholarly article

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15170223%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13 (English)

2 references

31 January 2017

Europe PubMed Central

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29 December 2019

Sodium channel, voltage-gated, type VIII, alpha

1 reference

GOA release 2020-03-11

David A. Buchner

1

1 reference

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29 December 2019

author name string

Kevin L Seburn

2

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29 December 2019

Wayne N Frankel

3

1 reference

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29 December 2019

Miriam H Meisler

4

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29 December 2019

publication date

1 May 2004

2 references

31 January 2017

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29 December 2019

number of pages

8

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based on heuristic

inferred from page(s)

Mammalian Genome

2 references

31 January 2017

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29 December 2019

15

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31 January 2017

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29 December 2019

5

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31 January 2017

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29 December 2019

344-351

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29 December 2019

https://scigraph.springernature.com/pub.10.1007/s00335-004-2332-1

0 references

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

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Identification of epilepsy genes in human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

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Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A "minimal" sodium channel construct consisting of ligated S5-P-S6 segments forms a toxin-activatable ionophore

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel ENU-induced eye mutations in the mouse: models for human eye disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overview of the voltage-gated sodium channel family

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SCNM1, a putative RNA splicing factor that modifies disease severity in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The selectivity filter of the voltage-gated sodium channel is involved in channel activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural models of Na+, Ca2+, and K+ channels.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

KcsA crystal structure as framework for a molecular model of the Na(+) channel pore

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Capitalizing on large-scale mouse mutagenesis screens

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular architecture of the voltage-dependent Na channel: functional evidence for alpha helices in the pore

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Voltage-gated sodium channels in epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ENU mutagenesis: analyzing gene function in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Initial sequencing and comparative analysis of the mouse genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MGD: the Mouse Genome Database

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ion channel mutations in mouse models of inherited neurological disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional genetic analysis of mouse chromosome 11

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sodium channel Na(v)1.6 is expressed along nonmyelinated axons and it contributes to conduction.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The contribution of resurgent sodium current to high-frequency firing in Purkinje neurons: an experimental and modeling study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sodium channels and neurological disease: insights from Scn8a mutations in the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The math of making mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel, abundant sodium channel expressed in neurons and glia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Novel Retinal Degeneration Locus Identified by Linkage and Comparative Mapping of Canine Early Retinal Degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/15170223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00335-004-2332-1

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15170223%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15170223%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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