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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2000 | 1 |
2008 | 1 |
2010 | 1 |
2012 | 2 |
2013 | 2 |
2014 | 1 |
2024 | 0 |
PubMed (cited) for id: 608167
7 results
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Page 1
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
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.
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
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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.
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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
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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.
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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.
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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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