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Maintaining the balance: both gain‐ and loss‐of‐function KCNA2 mutants cause epileptic encephalopathy
Author(s) -
Drögemöller B. I.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12615
Subject(s) - gain of function , loss function , mutant , epilepsy , mutation , encephalopathy , balance (ability) , function (biology) , biology , genetics , neuroscience , medicine , phenotype , gene
De novo loss‐ or gain‐of‐function mutations in KCNA2 cause epileptic encephalopathy Syrbe et al. (2015) Nat Genet 47(4):393–99