Property Summary

NCBI Gene PubMed Count 21
Grant Count 8
R01 Count 6
Funding $817,608.66
PubMed Score 69.01
PubTator Score 46.33

Knowledge Summary

Patent (1,365)

Expression

Gene RIF (13)

PMID Text
26725113 The sodium sensitivity of these epilepsy causing mutants probably determines the [Na(+)]i concentration at which these mutants exert their pathological effects.
26140313 This study demonstrate that KCNT1 mutations are strongly associated with early-onset epileptic encephalopathy.
26122718 We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than nocturnal frontal lobe epilepsy and malignant migrating focal seizures of infancy.
25482562 Nine different mutations of the KCNT1 (Slack) Na(+)-activated K(+) channel give rise to three distinct forms of epilepsy.
25347289 Slick channels, in contrast to the similar Slack channels, are the only high-conductance K+ channels strongly sensitive to small changes in cell volume.
25339316 Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients (20%)
24591078 This study demonistrated that KCNT1 mutations implicated in epilepsy cause a marked increase in function
24463883 Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 and PIGQ.
24315024 Novel variations in KCNT1 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI).
24279416 This gene-wide tagging study revealed no association between KCNT1 17 common variations and susceptibility of GGEs or AEDs (anti-epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population.
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AA Sequence

MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSLDSSLSQVQVE      1 - 70
FYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDPALGIGCWGCPKQNYSFNDSS     71 - 140
SEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIFRVSFVLEMINTLPFIITIFWP    141 - 210
PLRNLFIPVFLNCWLAKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENL    211 - 280
SLLTSFYFCIVTFSTVGYGDVTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQ    281 - 350
TEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKD    351 - 420
QDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFHVKFADHVVCE    421 - 490
EECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGNEVYHIRMGDSKFFREYEGKS    491 - 560
FTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAASDTCFYINITKEENSAFIFKQEEKRKKRAFS    561 - 630
GQGLHEGPARLPVHSIIASMGTVAMDLQGTEHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADS    631 - 700
SALLPCDLLSDQSEDEVTPSDDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNS    701 - 770
YEDAKAYGFKNKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYM    771 - 840
EGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITTELTHPSNMRF    841 - 910
MQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLLYQSFVKDYMITITRLLLGLD    911 - 980
TTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIGIYRTESHVFSTSESQISVNVEDCEDTREVK    981 - 1050
GPWGSRAGTGGSSQGRHTGGGDPAEHPLLRRKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSER   1051 - 1120
QELSELVKNRMKHLGLPTTGYEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDI   1121 - 1190
VYLIRSDPLAHVASSSQSRKSSCSHKLSSCNPETRDETQL                                 1191 - 1230
//

Text Mined References (22)

PMID Year Title
26725113 2016 Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms.
26140313 2015 De novo KCNT1 mutations in early-onset epileptic encephalopathy.
26122718 2015 Mutations in KCNT1 cause a spectrum of focal epilepsies.
25482562 2014 Human slack potassium channel mutations increase positive cooperativity between individual channels.
25347289 2014 Cell volume changes regulate slick (Slo2.1), but not slack (Slo2.2) K+ channels.
25339316 2014 Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
24591078 2014 KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
24315024 2014 Lack of pathogenic mutations in six patients with MMPSI.
24279416 2014 Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population.
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