Literature DB >> 19770477

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

S Rajakulendran1, S V Tan, E Matthews, S E Tomlinson, R Labrum, R Sud, D M Kullmann, S Schorge, M G Hanna.   

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Year:  2009        PMID: 19770477      PMCID: PMC2754337          DOI: 10.1212/WNL.0b013e3181b87959

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  7 in total

1.  Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Authors:  L H Eunson; R Rea; S M Zuberi; S Youroukos; C P Panayiotopoulos; R Liguori; P Avoni; R C McWilliam; J B Stephenson; M G Hanna; D M Kullmann; A Spauschus
Journal:  Ann Neurol       Date:  2000-10       Impact factor: 10.422

Review 2.  Genetic neurological channelopathies.

Authors:  Michael G Hanna
Journal:  Nat Clin Pract Neurol       Date:  2006-05

3.  Masking epilepsy by combining two epilepsy genes.

Authors:  Edward Glasscock; Jing Qian; Jong W Yoo; Jeffrey L Noebels
Journal:  Nat Neurosci       Date:  2007-11-04       Impact factor: 24.884

4.  Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

Authors:  D L Browne; S T Gancher; J G Nutt; E R Brunt; E A Smith; P Kramer; M Litt
Journal:  Nat Genet       Date:  1994-10       Impact factor: 38.330

5.  Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

Authors:  L J Ptácek; A L George; R L Barchi; R C Griggs; J E Riggs; M Robertson; M F Leppert
Journal:  Neuron       Date:  1992-05       Impact factor: 17.173

6.  What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

Authors:  E Matthews; S V Tan; D Fialho; M G Sweeney; R Sud; A Haworth; E Stanley; G Cea; M B Davis; M G Hanna
Journal:  Neurology       Date:  2008-01-01       Impact factor: 9.910

Review 7.  Episodic ataxia type 1: a neuronal potassium channelopathy.

Authors:  Sanjeev Rajakulendran; Stephanie Schorge; Dimitri M Kullmann; Michael G Hanna
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

  7 in total
  6 in total

1.  Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

Authors:  Susan E Tomlinson; S Veronica Tan; Dimitri M Kullmann; Robert C Griggs; David Burke; Michael G Hanna; Hugh Bostock
Journal:  Brain       Date:  2010-11-23       Impact factor: 13.501

Review 2.  Neurological perspectives on voltage-gated sodium channels.

Authors:  Niels Eijkelkamp; John E Linley; Mark D Baker; Michael S Minett; Roman Cregg; Robert Werdehausen; François Rugiero; John N Wood
Journal:  Brain       Date:  2012-09       Impact factor: 13.501

Review 3.  Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

Authors:  Kelsey Paulhus; Lauren Ammerman; Edward Glasscock
Journal:  Int J Mol Sci       Date:  2020-04-17       Impact factor: 5.923

4.  A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.

Authors:  Juan Zhao; Dimitri Petitjean; Georges A Haddad; Zarah Batulan; Rikard Blunck
Journal:  Int J Mol Sci       Date:  2020-10-14       Impact factor: 5.923

Review 5.  New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

Authors:  Maria Cristina D'Adamo; Sonia Hasan; Luca Guglielmi; Ilenio Servettini; Marta Cenciarini; Luigi Catacuzzeno; Fabio Franciolini
Journal:  Front Cell Neurosci       Date:  2015-08-19       Impact factor: 5.505

Review 6.  Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.

Authors:  Maria Cristina D'Adamo; Antonella Liantonio; Jean-Francois Rolland; Mauro Pessia; Paola Imbrici
Journal:  Int J Mol Sci       Date:  2020-04-22       Impact factor: 5.923

  6 in total

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