PubMed (OMIM) for id: 57582

Year	Number of Results
1995	1
2000	2
2005	1
2008	1
2010	1
2011	1
2012	3
2013	2
2014	1
2024	0

1

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.

Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ. Vanderver A, et al. Pediatr Neurol. 2014 Jan;50(1):112-4. doi: 10.1016/j.pediatrneurol.2013.06.024. Epub 2013 Oct 10. Pediatr Neurol. 2014. PMID: 24120652 Free PMC article.

2

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T. Ishii A, et al. Gene. 2013 Dec 1;531(2):467-71. doi: 10.1016/j.gene.2013.08.096. Epub 2013 Sep 10. Gene. 2013. PMID: 24029078

3

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. Barcia G, et al. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21. Nat Genet. 2012. PMID: 23086397 Free PMC article.

4

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21. Nat Genet. 2012. PMID: 23086396

5

A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy.

Lee EH, Yum MS, Jeong MH, Lee KY, Ko TS. Lee EH, et al. Brain Dev. 2012 Oct;34(9):768-72. doi: 10.1016/j.braindev.2011.11.011. Epub 2011 Dec 24. Brain Dev. 2012. PMID: 22197566

6

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack.

Brown MR, Kronengold J, Gazula VR, Chen Y, Strumbos JG, Sigworth FJ, Navaratnam D, Kaczmarek LK. Brown MR, et al. Nat Neurosci. 2010 Jul;13(7):819-21. doi: 10.1038/nn.2563. Epub 2010 May 30. Nat Neurosci. 2010. PMID: 20512134 Free PMC article.

7

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.

Derry CP, Heron SE, Phillips F, Howell S, MacMahon J, Phillips HA, Duncan JS, Mulley JC, Berkovic SF, Scheffer IE. Derry CP, et al. Epilepsia. 2008 Dec;49(12):2125-9. doi: 10.1111/j.1528-1167.2008.01652.x. Epub 2008 May 9. Epilepsia. 2008. PMID: 18479385 Free article.

8

Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome.

Marsh E, Melamed SE, Barron T, Clancy RR. Marsh E, et al. Epilepsia. 2005 Apr;46(4):568-72. doi: 10.1111/j.0013-9580.2005.34104.x. Epilepsia. 2005. PMID: 15816952 Free article.

9

Migrating partial seizures in infancy: two new cases.

Wilmshurst JM, Appleton DB, Grattan-Smith PJ. Wilmshurst JM, et al. J Child Neurol. 2000 Nov;15(11):717-22. doi: 10.1177/088307380001501102. J Child Neurol. 2000. PMID: 11108504 Review.

10

Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O. Nagase T, et al. DNA Res. 2000 Feb 28;7(1):65-73. doi: 10.1093/dnares/7.1.65. DNA Res. 2000. PMID: 10718198 Free article.

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