Literature DB >> 8541859

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

D L Browne1, E R Brunt, R C Griggs, J G Nutt, S T Gancher, E A Smith, M Litt.   

Abstract

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Year:  1995        PMID： 8541859     DOI： 10.1093/hmg/4.9.1671

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  20 in total

1.  Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.

Authors:  A Poujois; J-Ch Antoine; A Combes; R L Touraine
Journal:  J Neurol       Date:  2006-03-06       Impact factor: 4.849

2.  Progressive ataxia due to a missense mutation in a calcium-channel gene.

Authors:  Q Yue; J C Jen; S F Nelson; R W Baloh
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

3.  Neurological channelopathies.

Authors:  M R Rose
Journal:  BMJ       Date:  1998-04-11

4.  Moving gating charges through the gating pore in a Kv channel voltage sensor.

Authors:  Jérôme J Lacroix; H Clark Hyde; Fabiana V Campos; Francisco Bezanilla
Journal:  Proc Natl Acad Sci U S A       Date:  2014-04-29       Impact factor: 11.205

5.  A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.

Authors:  Jenny van der Wijst; Martin Konrad; Sjoerd A J Verkaart; Marcin Tkaczyk; Femke Latta; Janine Altmüller; Holger Thiele; Bodo Beck; Karl Peter Schlingmann; Jeroen H F de Baaij
Journal:  Nephron       Date:  2018-05-23       Impact factor: 2.847

6.  Overexpression of a Shaker-type potassium channel in mammalian central nervous system dysregulates native potassium channel gene expression.

Authors:  M L Sutherland; S H Williams; R Abedi; P A Overbeek; P J Pfaffinger; J L Noebels
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

Review 7.  Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Authors:  Julia Oyrer; Snezana Maljevic; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou; Christopher A Reid
Journal:  Pharmacol Rev       Date:  2018-01       Impact factor: 25.468

8.  Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.

Authors:  P Zerr; J P Adelman; J Maylie
Journal:  J Neurosci       Date:  1998-04-15       Impact factor: 6.167

Review 9.  Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.

Authors:  Niyathi Hegde Shah; Elias Aizenman
Journal:  Transl Stroke Res       Date:  2013-11-19       Impact factor: 6.829

10.  A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels.

Authors:  Dimitri Petitjean; Tanja Kalstrup; Juan Zhao; Rikard Blunck
Journal:  J Neurosci       Date:  2015-09-02       Impact factor: 6.167
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