Literature DB >> 20955935

Episodic neurological channelopathies.

Devon P Ryan1, Louis J Ptácek.   

Abstract

Inherited episodic neurological disorders are often due to mutations in ion channels or their interacting proteins, termed channelopathies. There are a wide variety of such disorders, from those causing paralysis, to extreme pain, to ataxia. A common theme in these is alteration of action potential properties or synaptic transmission and a resulting increased propensity of the resulting tissue to enter into or stay in an altered excitability state. Manifestations of these disorders are triggered by an array of precipitants, all of which stress the particular affected tissue in some way and aid in propelling its activity into an aberrant state. Study of these disorders has aided in the understanding of disease risk factors and elucidated the cause of clinically related sporadic disorders. The findings from study of these disorders will aid in the diagnosis and efficient targeted treatment of affected patients.
Copyright © 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20955935     DOI: 10.1016/j.neuron.2010.10.008

Source DB:  PubMed          Journal:  Neuron        ISSN: 0896-6273            Impact factor:   17.173


  32 in total

1.  Severe neurologic impairment in mice with targeted disruption of the electrogenic sodium bicarbonate cotransporter NBCe2 (Slc4a5 gene).

Authors:  Liyo Kao; Lisa M Kurtz; Xuesi Shao; Marios C Papadopoulos; Li Liu; Dean Bok; Steven Nusinowitz; Bryan Chen; Salvatore L Stella; Mark Andre; Josh Weinreb; Serena S Luong; Natik Piri; Jacky M K Kwong; Debra Newman; Ira Kurtz
Journal:  J Biol Chem       Date:  2011-06-24       Impact factor: 5.157

Review 2.  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 3.  Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature.

Authors:  Elan L Guterman; Brian Yurgionas; Alexandra B Nelson
Journal:  Neurology       Date:  2016-06-07       Impact factor: 9.910

Review 4.  The Relationship Between Headaches with Epileptic and Non-epileptic Seizures: a Narrative Review.

Authors:  William S Kingston; Todd J Schwedt
Journal:  Curr Pain Headache Rep       Date:  2017-03

5.  Abnormal excitability and episodic low-frequency oscillations in the cerebral cortex of the tottering mouse.

Authors:  Samuel W Cramer; Laurentiu S Popa; Russell E Carter; Gang Chen; Timothy J Ebner
Journal:  J Neurosci       Date:  2015-04-08       Impact factor: 6.167

6.  Two-pore channels provide insight into the evolution of voltage-gated Ca2+ and Na+ channels.

Authors:  Taufiq Rahman; Xinjiang Cai; G Cristina Brailoiu; Mary E Abood; Eugen Brailoiu; Sandip Patel
Journal:  Sci Signal       Date:  2014-11-18       Impact factor: 8.192

Review 7.  Diverse roles for auxiliary subunits in phosphorylation-dependent regulation of mammalian brain voltage-gated potassium channels.

Authors:  Helene Vacher; James S Trimmer
Journal:  Pflugers Arch       Date:  2011-08-06       Impact factor: 3.657

8.  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

9.  Human slack potassium channel mutations increase positive cooperativity between individual channels.

Authors:  Grace E Kim; Jack Kronengold; Giulia Barcia; Imran H Quraishi; Hilary C Martin; Edward Blair; Jenny C Taylor; Olivier Dulac; Laurence Colleaux; Rima Nabbout; Leonard K Kaczmarek
Journal:  Cell Rep       Date:  2014-12-04       Impact factor: 9.423

10.  Anticholinergic responsive cyclic myoclonus.

Authors:  Sheng-Han Kuo; Tao Xie; Stanley Fahn
Journal:  Mov Disord       Date:  2013-02-12       Impact factor: 10.338

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