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Axonal Ion Channel Dysfunction inC9orf72Familial Amyotrophic Lateral Sclerosis
Author(s) -
Nimeshan Geevasinga,
Parvathi Me,
James Howells,
Garth A. Nicholson,
Matthew C. Kiernan,
Steve Vucic
Publication year - 2014
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2014.2940
Subject(s) - c9orf72 , amyotrophic lateral sclerosis , asymptomatic , fasciculation , medicine , cardiology , neuroscience , psychology , anesthesia , disease , frontotemporal dementia , dementia
Abnormalities of axonal excitability characterized by upregulation of persistent sodium (Na+) conductances and reduced potassium (K+) currents have been reported in sporadic amyotrophic lateral sclerosis (SALS) phenotypes and linked to the development of clinical features such as fasciculations and neurodegeneration.

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