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Literature DB >> 16511644

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.

A Poujois, J-Ch Antoine, A Combes, R L Touraine.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2006 PMID： 16511644 DOI： 10.1007/s00415-006-0134-y

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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11 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

2. A role for hydrophobic residues in the voltage-dependent gating of Shaker K+ channels.

Authors: K McCormack; M A Tanouye; L E Iverson; J W Lin; M Ramaswami; T McCormack; J T Campanelli; M K Mathew; B Rudy
Journal: Proc Natl Acad Sci U S A Date: 1991-04-01 Impact factor: 11.205

Review 3. Potassium channelopathies.

Authors: M C Sanguinetti; P S Spector
Journal: Neuropharmacology Date: 1997-06 Impact factor: 5.250

4. Determinants of 4-aminopyridine sensitivity in a human brain kv1.4 k(+) channel: phenylalanine substitutions in leucine heptad repeat region stabilize channel closed state.

Authors: Susan I V Judge; Jay Z Yeh; James E Goolsby; Mervyn J Monteiro; Christopher T Bever
Journal: Mol Pharmacol Date: 2002-04 Impact factor: 4.436

5. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Authors: S M Zuberi; L H Eunson; A Spauschus; R De Silva; J Tolmie; N W Wood; R C McWilliam; J B Stephenson; J P Stephenson; D M Kullmann; M G Hanna
Journal: Brain Date: 1999-05 Impact factor: 13.501

6. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

Authors: D L Browne; E R Brunt; R C Griggs; J G Nutt; S T Gancher; E A Smith; M Litt
Journal: Hum Mol Genet Date: 1995-09 Impact factor: 6.150

7. A novel mutation in KCNA1 causes episodic ataxia without myokymia.

Authors: Hane Lee; Hui Wang; Joanna C Jen; Chiara Sabatti; Robert W Baloh; Stanley F Nelson
Journal: Hum Mutat Date: 2004-12 Impact factor: 4.878

8. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.

Authors: P Zerr; J P Adelman; J Maylie
Journal: J Neurosci Date: 1998-04-15 Impact factor: 6.167

9. Hereditary myokymia and periodic ataxia.

Authors: D H VanDyke; R C Griggs; M J Murphy; M N Goldstein
Journal: J Neurol Sci Date: 1975-05 Impact factor: 3.181

10. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.

Authors: M Kinali; H Jungbluth; L H Eunson; C A Sewry; A Y Manzur; E Mercuri; M G Hanna; F Muntoni
Journal: Neuromuscul Disord Date: 2004-10 Impact factor: 4.296

10 in total

Review 1. Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.

Authors: Niyathi Hegde Shah; Elias Aizenman
Journal: Transl Stroke Res Date: 2013-11-19 Impact factor: 6.829

Review 2. 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

Review 3. Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors: Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal: Int J Mol Sci Date: 2020-05-20 Impact factor: 5.923

Review 4. Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.

Authors: Laura Zima; Sophia Ceulemans; Gail Reiner; Serena Galosi; Dillon Chen; Michelle Sahagian; Richard H Haas; Keith Hyland; Jennifer Friedman
Journal: Ann Clin Transl Neurol Date: 2018-07-17 Impact factor: 4.511

5. 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

6. Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.

Authors: Paola Imbrici; Andrea Accogli; Rikard Blunck; Concetta Altamura; Michele Iacomino; Maria Cristina D'adamo; Anna Allegri; Marina Pedemonte; Noemi Brolatti; Stella Vari; Matteo Cataldi; Valeria Capra; Stefano Gustincich; Federico Zara; Jean-Francois Desaphy; Chiara Fiorillo
Journal: Biomedicines Date: 2021-01-14