Literature DB >> 25668025

Episodic disorders: channelopathies and beyond.

Louis J Ptáček1.   

Abstract

Entities:  

Keywords:  channelopathies; epilepsy; genetic disorders; headache; paroxysmal

Mesh：

Substances：

Year:  2015        PMID： 25668025     DOI： 10.1146/annurev-physiol-021014-071922

Source DB:  PubMed          Journal:  Annu Rev Physiol        ISSN： 0066-4278            Impact factor:   19.318


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  7 in total

1.  High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Authors:  Carlos G Vanoye; Reshma R Desai; Katarina L Fabre; Shannon L Gallagher; Franck Potet; Jean-Marc DeKeyser; Daniela Macaya; Jens Meiler; Charles R Sanders; Alfred L George
Journal:  Circ Genom Precis Med       Date:  2018-11

Review 2.  The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.

Authors:  Roberto Erro; Kailash P Bhatia; Alberto J Espay; Pasquale Striano
Journal:  Mov Disord       Date:  2017-01-16       Impact factor: 10.338

3.  Protein surface topography as a tool to enhance the selective activity of a potassium channel blocker.

Authors:  Antonina A Berkut; Anton O Chugunov; Konstantin S Mineev; Steve Peigneur; Valentin M Tabakmakher; Nikolay A Krylov; Peter B Oparin; Alyona F Lihonosova; Ekaterina V Novikova; Alexander S Arseniev; Eugene V Grishin; Jan Tytgat; Roman G Efremov; Alexander A Vassilevski
Journal:  J Biol Chem       Date:  2019-09-18       Impact factor: 5.157

4.  Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.

Authors:  Yiguo Shen; Woo-Ping Ge; Yulong Li; Arisa Hirano; Hsien-Yang Lee; Astrid Rohlmann; Markus Missler; Richard W Tsien; Lily Yeh Jan; Ying-Hui Fu; Louis J Ptáček
Journal:  Proc Natl Acad Sci U S A       Date:  2015-02-17       Impact factor: 11.205

5.  Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.

Authors:  Honglan Zheng; Xinhao Yan; Guanluan Li; Hengwei Lin; Siqi Deng; Wenhui Zhuang; Fuqiang Yao; Yu Lu; Xin Xia; Huijun Yuan; Li Jin; Zhiqiang Yan
Journal:  Genome Res       Date:  2022-06-27       Impact factor: 9.438

6.  Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

Authors:  Oana Chever; Sarah Zerimech; Paolo Scalmani; Louisiane Lemaire; Lara Pizzamiglio; Alexandre Loucif; Marion Ayrault; Martin Krupa; Mathieu Desroches; Fabrice Duprat; Isabelle Léna; Sandrine Cestèle; Massimo Mantegazza
Journal:  J Clin Invest       Date:  2021-11-01       Impact factor: 14.808

7.  Focal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation: a case report.

Authors:  Leema Reddy Peddareddygari; Arman Singh Grewal; Raji Paul Grewal
Journal:  J Med Case Rep       Date:  2016-06-07
  7 in total

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