Literature DB >> 6095738

Isolating single genes of the inherited epilepsies.

J L Noebels.   

Abstract

Defined gene mutations in mice offer a singular opportunity to learn how individual genes alter excitability and plasticity within the developing central nervous system. The search for mutant loci that initiate abnormal synchronous discharges characteristic of the epilepsies is a simple method of identifying some of these genes. This method provides a coherent framework for the design of strategies to isolate and correct the biochemical lesion prior to the clinical expression of the disease. The tottering mutation is the first to yield new clues as to the mechanisms of inherited epileptogenesis.

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Year:  1984        PMID: 6095738     DOI: 10.1002/ana.410160705

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  7 in total

1.  Cellular-synaptic generation of sleep spindles, spike-and-wave discharges, and evoked thalamocortical responses in the neocortex of the rat.

Authors:  A Kandel; G Buzsáki
Journal:  J Neurosci       Date:  1997-09-01       Impact factor: 6.167

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

Authors:  J Qian; J L Noebels
Journal:  J Neurosci       Date:  2000-01-01       Impact factor: 6.167

3.  Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a.

Authors:  T A Zwingman; P E Neumann; J L Noebels; K Herrup
Journal:  J Neurosci       Date:  2001-02-15       Impact factor: 6.167

4.  Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)).

Authors:  Y Mori; M Wakamori; S Oda; C F Fletcher; N Sekiguchi; E Mori; N G Copeland; N A Jenkins; K Matsushita; Z Matsuyama; K Imoto
Journal:  J Neurosci       Date:  2000-08-01       Impact factor: 6.167

5.  Hippocampus-related cognitive disorders develop in the absence of epilepsy and ataxia in the heterozygous Cacna1a mutant mice tottering.

Authors:  Akito Nakao; Katsumi Hayashida; Hiroo Ogura; Yasuo Mori; Keiji Imoto
Journal:  Channels (Austin)       Date:  2022-12       Impact factor: 3.493

6.  A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis.

Authors:  Xuejun Tian; Upasana Gala; Yongping Zhang; Weina Shang; Sonal Nagarkar Jaiswal; Alberto di Ronza; Manish Jaiswal; Shinya Yamamoto; Hector Sandoval; Lita Duraine; Marco Sardiello; Roy V Sillitoe; Kartik Venkatachalam; Hengyu Fan; Hugo J Bellen; Chao Tong
Journal:  PLoS Biol       Date:  2015-03-26       Impact factor: 8.029

Review 7.  The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

Authors:  Jaap J Plomp; Arn M J M van den Maagdenberg; Simon Kaja
Journal:  Cerebellum       Date:  2009-05-30       Impact factor: 3.847

  7 in total

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