Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy (Q30486496)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19234123%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy (English)

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22 January 2020

1 reference

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22 January 2020

John C Oakley

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22 January 2020

Franck Kalume

series ordinal

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22 January 2020

Todd Scheuer

series ordinal

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22 January 2020

William A Catterall

series ordinal

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22 January 2020

language of work or name

English

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publication date

20 February 2009

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Proceedings of the National Academy of Sciences of the United States of America

22 January 2020

published in

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22 January 2020

volume

106

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22 January 2020

issue

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22 January 2020

page(s)

3994-3999

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Navigating the channels and beyond: unravelling the genetics of the epilepsies

22 January 2020

cites work

1 reference

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Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy

20 June 2018

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Fever, febrile seizures and epilepsy

20 June 2018

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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

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

20 June 2018

1 reference

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Molecular genetics of febrile seizures

20 June 2018

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Experimental febrile seizures are precipitated by a hyperthermia-induced respiratory alkalosis

20 June 2018

1 reference

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Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.

20 June 2018

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SCN1A mutations and epilepsy

20 June 2018

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A population-based study of primary human herpesvirus 6 infection

20 June 2018

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Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort

20 June 2018

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Severe myoclonic epilepsy in infancy: Dravet syndrome.

20 June 2018

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Fever, genes, and epilepsy

20 June 2018

1 reference

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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

20 June 2018

1 reference

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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

20 June 2018

1 reference

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Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

20 June 2018

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Severe myoclonic epilepsy in infants--a review based on the Tokyo Women's Medical University series of 84 cases

20 June 2018

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A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

20 June 2018

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Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

20 June 2018

1 reference

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

20 June 2018

1 reference

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

20 June 2018

1 reference

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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

20 June 2018

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Clinical study of epilepsy with severe febrile seizures and seizures induced by hot water bath

20 June 2018

1 reference

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

20 June 2018

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A simple, rapid method for isolation of high quality genomic DNA from animal tissues

20 June 2018

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Human herpesvirus-6 infection in children with first febrile seizures

20 June 2018

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Modification of seizure activity by electrical stimulation. II. Motor seizure

20 June 2018

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Differential regulation of three sodium channel messenger RNAs in the rat central nervous system during development.

20 June 2018

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Tissue-specific expression of the RI and RII sodium channel subtypes

20 June 2018

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Elevated expression of type II Na+ channels in hypomyelinated axons of shiverer mouse brain

20 June 2018

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The spectrum of SCN1A-related infantile epileptic encephalopathies

20 June 2018

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Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy

21 January 2018

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Causal links between brain cytokines and experimental febrile convulsions in the rat.

21 January 2018

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Effects of body temperature on neural activity in the hippocampus: regulation of resting membrane potentials by transient receptor potential vanilloid 4.

21 January 2018

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Type I and type II Na(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain

21 January 2018

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

26 November 2018

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12 December 2020

Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons

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12 December 2020

Severe myoclonic epilepsy in infancy: evolution of seizures

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12 December 2020

A novel GABRG2 mutation associated with febrile seizures

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12 December 2020

Identifiers

DOI

10.1073/PNAS.0813330106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19234123%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

0 references

1 reference

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22 January 2020

PubMed publication ID

19234123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19234123%20AND%20SRC:MED&resulttype=core&format=json