Literature DB >> 14985406

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

M C Richards1, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, A Davy.   

Abstract

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Year:  2004        PMID： 14985406      PMCID： PMC1735682          DOI： 10.1136/jmg.2003.013938

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  26 in total

1.  A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.

Authors:  Jun Su; Xu Cao; KeWei Wang
Journal:  J Biol Chem       Date:  2011-09-21       Impact factor: 5.157

2.  Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Authors:  S E Heron; K Cox; B E Grinton; S M Zuberi; S Kivity; Z Afawi; R Straussberg; S F Berkovic; I E Scheffer; J C Mulley
Journal:  J Med Genet       Date:  2007-08-03       Impact factor: 6.318

Review 3.  The domain and conformational organization in potassium voltage-gated ion channels.

Authors:  Anastasia V Pischalnikova; Olga S Sokolova
Journal:  J Neuroimmune Pharmacol       Date:  2008-10-03       Impact factor: 4.147

Review 4.  Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.

Authors:  Helene Vacher; James S Trimmer
Journal:  Epilepsia       Date:  2012-12       Impact factor: 5.864

Review 5.  Ion channels as drug targets in central nervous system disorders.

Authors:  A M Waszkielewicz; A Gunia; N Szkaradek; K Słoczyńska; S Krupińska; H Marona
Journal:  Curr Med Chem       Date:  2013       Impact factor: 4.530

Review 6.  Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Authors:  Feng Wei; Li-Min Yan; Tao Su; Na He; Zhi-Jian Lin; Jie Wang; Yi-Wu Shi; Yong-Hong Yi; Wei-Ping Liao
Journal:  Neurosci Bull       Date:  2017-05-09       Impact factor: 5.203

7.  Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulum.

Authors:  Alessandro Alaimo; Juan Camilo Gómez-Posada; Paloma Aivar; Ainhoa Etxeberría; Jose Angel Rodriguez-Alfaro; Pilar Areso; Alvaro Villarroel
Journal:  J Biol Chem       Date:  2009-06-03       Impact factor: 5.157

Review 8.  Nervous system KV7 disorders: breakdown of a subthreshold brake.

Authors:  Snezana Maljevic; Thomas V Wuttke; Holger Lerche
Journal:  J Physiol       Date:  2008-01-31       Impact factor: 5.182

Review 9.  The C-terminus of Kv7 channels: a multifunctional module.

Authors:  Yoni Haitin; Bernard Attali
Journal:  J Physiol       Date:  2008-01-24       Impact factor: 5.182

Review 10.  Channelopathies in idiopathic epilepsy.

Authors:  Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; Leanne M Dibbens; John C Mulley
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620
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