E. R. Brunt

Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome

Nikki Plaster, Rabi Tawil, Martin Tristani‐Firouzi et al. · Cell · 2001 · 998 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Hsien-Yang Lee, Yong Huang, Nadine Bruneau et al. · Cell Reports · 2012 · 267 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Spinocerebellar ataxias in the Netherlands

Bart P.C. van de Warrenburg, Richard J. Sinke, Corien C. Verschuuren‐Bemelmans et al. · Neurology · 2002 · 254 citations · Full text

Life Sciences, Genetics, Neurology +17

Polarised Asymmetric Inheritance of Accumulated Protein Damage in Higher Eukaryotes

Maria A. Rujano, Floris Bosveld, Florian A. Salomons et al. · PLoS Biology · 2006 · 245 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16