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. 2018 Jan 2;90(1):e55–e66. doi: 10.1212/WNL.0000000000004762

Figure 4. Schematic diagram of the location of mutations in KCNT1 in this and previously published studies.

Figure 4

KCNT1 encodes sequence like a calcium-dependent potassium channel (SLACK), which forms tetramers (top left) or heteromers with KCNT2 or sequence like an intermediate conductance K channel (SLICK). The structure comprises 6 transmembrane domains with a pore-forming region, regulator of potassium conductance (RCK), and nicotinamide adenine dinucleotide–binding (NAD-B) domains. EIMFS phenotypes are shaded in purple, ADNFLE or NFLE in pink, others (Ohtahara syndrome, leukoencephalopathy, focal epilepsy, EOEE, West syndrome, unaffected) in orange. Mutations giving rise to >1 phenotype are shaded with a combination of the corresponding colors. Novel mutations identified in this study are outlined in green, those identified in previous studies in turquoise. ADNFLE = autosomal dominant nocturnal frontal lobe epilepsy; EIMFS = epilepsy of infancy with migrating focal seizures; EOEE = early-onset epileptic encephalopathy; NFLE = nocturnal frontal lobe epilepsy.