Masking epilepsy by combining two epilepsy genes. (Q46914791)

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9 January 2020

title

Masking epilepsy by combining two epilepsy genes (English)

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4

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author name string

Edward Glasscock

series ordinal

1

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9 January 2020

Jing Qian

series ordinal

2

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9 January 2020

Jong W Yoo

series ordinal

3

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language of work or name

English

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publication date

4 November 2007

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9 January 2020

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volume

10

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issue

12

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page(s)

1554-1558

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https://scigraph.springernature.com/pub.10.1038/nn1999

9 January 2020

exact match

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cites work

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Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

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Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

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Abnormal action potentials associated with the Shaker complex locus of Drosophila

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Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering

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Absence epilepsy in tottering mutant mice is associated with calcium channel defects

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7 January 2021

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

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7 January 2021

Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutations

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7 January 2021

Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain

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7 January 2021

Altered hippocampal network excitability in the hypernoradrenergic mutant mouse tottering.

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7 January 2021

Hyperexcitability of CA3 pyramidal cells in mice lacking the potassium channel subunit Kv1.1.

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7 January 2021

Activity-dependent modulation of K+ currents at presynaptic terminals of mammalian central synapses.

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Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

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Modifier genes convert "simple" Mendelian disorders to complex traits

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Hyperexcitability and reduced low threshold potassium currents in auditory neurons of mice lacking the channel subunit Kv1.1.

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7 January 2021

Enhanced G protein-dependent modulation of excitatory synaptic transmission in the cerebellum of the Ca2+ channel-mutant mouse, tottering.

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7 January 2021

Identifiers

DOI

10.1038/NN1999

1 reference

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9 January 2020

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