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KCNT1 mutations in ADNFLE and MMPSI : a new driver in the etiology and pathophysiology of early‐onset epileptic syndromes
Author(s) -
Aminkeng F
Publication year - 2013
Publication title -
clinical genetics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12082
Subject(s) - missense mutation , mutation , pathophysiology , genetics , biology , gene , endocrinology
Missense mutations in the sodium‐gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy Heron et al. (2012) Nature Genetics 44(11): 1188–1190. De novo gain‐of‐function KCNT1 channel mutations cause malignant migrating partial seizures of infancy Barcia et al. (2012) Nature Genetics 44(11): 1255–1259.