Concepedia

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Catherine A. Brownstein, Alan H. Beggs, Lance H. Rodan, Jiahai Shi, Meghan C. Towne, Renée C. Pelletier, Siqi Cao, Paul A. Rosenberg, David K. Urion, Jonathan Picker,

Neurogenetics · 2015 · 28 citations · 12 references

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12

Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment

Stephen B. Long, Xiao Tao, Ernest B. Campbell et al. · Nature · 2007 · 1.4K citations

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Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Radoje Drmanac, Andrew B. Sparks, Matthew J. Callow et al. · Science · 2009 · 1.2K citations

, , +13

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

D.L. Browne, Stephen T. Gancher, John G. Nutt et al. · Nature Genetics · 1994 · 776 citations

, , +16

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

Sameer M. Zuberi · Brain · 1999 · 367 citations · Full text

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Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

Tracey D. Graves, Yoon‐Hee Cha, Angelika F. Hahn et al. · Brain · 2014 · 98 citations · Full text

, , +16