EPISODIC ATAXIA, TYPE 1; EA1

Literature (6)

Literature for OMIM 160120: EPISODIC ATAXIA, TYPE 1; EA1

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Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia., Chen H,von Hehn C,Kaczmarek LK,Ment LR,Pober BR,Hisama FM, Neurogenetics. April 1, 2007; 8(2):1364-6745.
Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain., Imbrici P,D'Adamo MC,Grottesi A,Biscarini A,Pessia M, Am J Physiol Cell Physiol. June 1, 2011; 300(6):1522-1563.
Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures., Ishida S,Sakamoto Y,Nishio T,Baulac S,Kuwamura M,Ohno Y,Takizawa A,Kaneko S,Serikawa T,Mashimo T, Dev Biol. January 30, 2012; 1435:0012-1606.
A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels., Petitjean D,Kalstrup T,Zhao J,Blunck R, J Neurosci. September 2, 2015; 35(35):1529-2401.
Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.
Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker., Hasan S,Megaro A,Cenciarini M,Coretti L,Botti FM,Imbrici P,Steinbusch HWM,Hunter T,Hunter G,Pessia M,D'Adamo MC, Pflugers Arch. July 1, 2020; 472(7):1432-2013.

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia., Chen H,von Hehn C,Kaczmarek LK,Ment LR,Pober BR,Hisama FM, Neurogenetics. April 1, 2007; 8(2):1364-6745.

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures., Ishida S,Sakamoto Y,Nishio T,Baulac S,Kuwamura M,Ohno Y,Takizawa A,Kaneko S,Serikawa T,Mashimo T, Dev Biol. January 30, 2012; 1435:0012-1606.

Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.

Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker., Hasan S,Megaro A,Cenciarini M,Coretti L,Botti FM,Imbrici P,Steinbusch HWM,Hunter T,Hunter G,Pessia M,D'Adamo MC, Pflugers Arch. July 1, 2020; 472(7):1432-2013.