(Q54634416)

1 June 2018

title

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

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1 June 2018

author

Jennifer A. Kearney

4

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1 June 2018

author name string

Sarah K Bergren

1

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1 June 2018

Shu Chen

2

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1 June 2018

Andrzej Galecki

3

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1 June 2018

publication date

1 September 2005

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1 June 2018

number of pages

8

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inferred from page(s)

published in

Mammalian Genome

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1 June 2018

volume

16

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1 June 2018

issue

9

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1 June 2018

page(s)

683-690

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1 June 2018

https://scigraph.springernature.com/pub.10.1007/s00335-005-0049-4

exact match

0 references

cites work

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

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https://api.crossref.org/works/10.1007%2FS00335-005-0049-4

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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

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Expression analysis of metabotropic glutamate receptors I and III in mouse strains with different susceptibility to experimental temporal lobe epilepsy

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Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

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

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New seizure frequency QTL and the complex genetics of epilepsy in EL mice.

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Mouse strain variation in maximal electroshock seizure threshold.

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Mapping murine loci for seizure response to kainic acid

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Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

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Sodium channel mutations in epilepsy and other neurological disorders

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Multiple seizure susceptibility genes on chromosome 7 in SWXL-4 congenic mouse strains

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Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: nomination of Kcnj10 as a causative gene

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Electroconvulsive thresholds of inbred mouse strains.

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Genetic and phenotypic analysis of seizure susceptibility in PL/J mice

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

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

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Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease

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Genetic loci modulating fitness and life span in Caenorhabditis elegans: categorical trait interval mapping in CL2a x Bergerac-BO recombinant-inbred worms.

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Genetic analysis of audiogenic seizure susceptibility in C57BL/6J X DBA/2J recombinant inbred strains of mice

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Empirical threshold values for quantitative trait mapping

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Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A

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Molecular basis of an inherited epilepsy

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12 December 2020

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

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Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb.

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Dickkopf1 is required for embryonic head induction and limb morphogenesis in the mouse

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Acute cocaine-induced seizures: differential sensitivity of six inbred mouse strains

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Interaction between the sodium channel inactivation linker and domain III S4-S5.

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12 December 2020

10.1007/S00335-005-0049-4

Identifiers

DOI

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1 June 2018

PubMed ID

16245025

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1 June 2018