Literature DB >> 15562308

Inherited Channelopathies Associated with Epilepsy.

Alfred L George1.   

Abstract

Ion channels are critical for neuronal excitability and provide important targets for anticonvulsant drugs. In the past few years, several monogenetic epilepsies have been linked to mutations in genes encoding either voltage-gated or ligand-gated channels. The recognition that certain epilepsy syndromes are "channelopathies" initiates a new era in understanding the molecular pathophysiology of seizure disorders. This review summarizes recent advances related to this exciting area of investigation.

Entities:  

Year:  2004        PMID： 15562308      PMCID： PMC531663          DOI： 10.1111/j.1535-7597.2004.42010.x

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


  35 in total

1.  Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.

Authors:  B Abou-Khalil; Q Ge; R Desai; R Ryther; A Bazyk; R Bailey; J L Haines; J S Sutcliffe; A L George
Journal:  Neurology       Date:  2001-12-26       Impact factor: 9.910

2.  KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.

Authors:  H S Wang; Z Pan; W Shi; B S Brown; R S Wymore; I S Cohen; J E Dixon; D McKinnon
Journal:  Science       Date:  1998-12-04       Impact factor: 47.728

3.  A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Authors:  T Sugawara; Y Tsurubuchi; K L Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa
Journal:  Proc Natl Acad Sci U S A       Date:  2001-05-22       Impact factor: 11.205

4.  A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

Authors:  A Escayg; A Heils; B T MacDonald; K Haug; T Sander; M H Meisler
Journal:  Am J Hum Genet       Date:  2001-03-14       Impact factor: 11.025

5.  Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

Authors:  R Singh; E Andermann; W P Whitehouse; A S Harvey; D L Keene; M H Seni; K M Crossland; F Andermann; S F Berkovic; I E Scheffer
Journal:  Epilepsia       Date:  2001-07       Impact factor: 5.864

6.  Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

Authors:  A Escayg; M De Waard; D D Lee; D Bichet; P Wolf; T Mayer; J Johnston; R Baloh; T Sander; M H Meisler
Journal:  Am J Hum Genet       Date:  2000-04-04       Impact factor: 11.025

7.  Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.

Authors:  J Spampanato; A Escayg; M H Meisler; A L Goldin
Journal:  Neuroscience       Date:  2003       Impact factor: 3.590

8.  Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.

Authors:  B C Schroeder; C Kubisch; V Stein; T J Jentsch
Journal:  Nature       Date:  1998-12-17       Impact factor: 49.962

9.  Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Authors:  R H Wallace; D W Wang; R Singh; I E Scheffer; A L George; H A Phillips; K Saar; A Reis; E W Johnson; G R Sutherland; S F Berkovic; J C Mulley
Journal:  Nat Genet       Date:  1998-08       Impact factor: 38.330

10.  De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Authors:  Lieve Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann Löfgren; Jurgen Del-Favero; Sirpa Ala-Mello; Lina Basel-Vanagaite; Barbara Plecko; Salmo Raskin; Paul Thiry; Nicole I Wolf; Christine Van Broeckhoven; Peter De Jonghe
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878
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  16 in total

1.  Modeling brain dynamics using computational neurogenetic approach.

Authors:  Lubica Benuskova; Nikola Kasabov
Journal:  Cogn Neurodyn       Date:  2008-09-16       Impact factor: 5.082

2.  Deep Blue "Seq": Fishing for Epilepsy Genes.

Authors:  Zane Lybrand; Jenny Hsieh
Journal:  Epilepsy Curr       Date:  2016 Mar-Apr       Impact factor: 7.500

3.  Antiepileptic activity of preferential inhibitors of persistent sodium current.

Authors:  Lyndsey L Anderson; Christopher H Thompson; Nicole A Hawkins; Ravi D Nath; Adam A Petersohn; Sridharan Rajamani; William S Bush; Wayne N Frankel; Carlos G Vanoye; Jennifer A Kearney; Alfred L George
Journal:  Epilepsia       Date:  2014-05-23       Impact factor: 5.864

4.  Persistent sodium current and its role in epilepsy.

Authors:  Carl E Stafstrom
Journal:  Epilepsy Curr       Date:  2007 Jan-Feb       Impact factor: 7.500

5.  Phase-dependent stimulation effects on bursting activity in a neural network cortical simulation.

Authors:  William S Anderson; Pawel Kudela; Seth Weinberg; Gregory K Bergey; Piotr J Franaszczuk
Journal:  Epilepsy Res       Date:  2009-01-29       Impact factor: 3.045

Review 6.  Potassium Channels in Epilepsy.

Authors:  Rüdiger Köhling; Jakob Wolfart
Journal:  Cold Spring Harb Perspect Med       Date:  2016-05-02       Impact factor: 6.915

Review 7.  Model systems for studying cellular mechanisms of SCN1A-related epilepsy.

Authors:  Soleil S Schutte; Ryan J Schutte; Eden V Barragan; Diane K O'Dowd
Journal:  J Neurophysiol       Date:  2016-02-03       Impact factor: 2.714

8.  Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy.

Authors:  Divya Sinha; Benjamin Steyer; Pawan K Shahi; Katherine P Mueller; Rasa Valiauga; Kimberly L Edwards; Cole Bacig; Stephanie S Steltzer; Sandhya Srinivasan; Amr Abdeen; Evan Cory; Viswesh Periyasamy; Alireza Fotuhi Siahpirani; Edwin M Stone; Budd A Tucker; Sushmita Roy; Bikash R Pattnaik; Krishanu Saha; David M Gamm
Journal:  Am J Hum Genet       Date:  2020-07-23       Impact factor: 11.025

9.  Perturbation of sodium channel structure by an inherited Long QT Syndrome mutation.

Authors:  Ian W Glaaser; Jeremiah D Osteen; Akil Puckerin; Kevin J Sampson; Xiangshu Jin; Robert S Kass
Journal:  Nat Commun       Date:  2012-02-28       Impact factor: 14.919

Review 10.  Synaptic inhibition and γ-aminobutyric acid in the mammalian central nervous system.

Authors:  Kunihiko Obata
Journal:  Proc Jpn Acad Ser B Phys Biol Sci       Date:  2013       Impact factor: 3.493
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