Premium
Location: A surrogate for personalized treatment of sodium channelopathies
Author(s) -
Holland Katherine D.,
Bouley Thomas M.,
Horn Paul S.
Publication year - 2018
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25268
Subject(s) - sodium channel , missense mutation , epilepsy , neuroscience , phenotype , medicine , channelopathy , clinical practice , sodium , bioinformatics , psychology , genetics , biology , gene , chemistry , physical therapy , organic chemistry
Voltage‐gated sodium channels have been implicated in numerous inherited paroxysmal disorders of the nervous system, muscle, and heart. Our goal is to provide a framework that helps neurologists understand the clinical and treatment implications of sodium channel variants they encounter in clinical practice. This will be accomplished through our objectives of (1) recognizing the relationship between location of a missense sodium channel gene variant and its effect on channel function, and (2) categorizing clinical phenotype based on functional effect of a variant. The relationship between location, function, and treatment response is also discussed. These interactions can be illustrated by the sodium channelopathies seen in people with epilepsy but generalize beyond that disorder. Ann Neurol 2018;83:1–9