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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2011 | 1 |
2013 | 3 |
2015 | 2 |
2024 | 0 |
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6 results
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Page 1
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Am J Hum Genet. 2015 May 7;96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016. Epub 2015 Apr 9.
Am J Hum Genet. 2015.
PMID: 25865495
Free PMC article.
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP.
Larsen J, et al.
Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7.
Neurology. 2015.
PMID: 25568300
Free PMC article.
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Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.
Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC.
Mullen SA, et al.
Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25.
Neurology. 2013.
PMID: 24068782
Free PMC article.
Review.
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GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC.
Carvill GL, et al.
Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.
Nat Genet. 2013.
PMID: 23933818
Free PMC article.
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC.
Carvill GL, et al.
Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.
Nat Genet. 2013.
PMID: 23708187
Free PMC article.
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Rare copy number variants are an important cause of epileptic encephalopathies.
Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE.
Mefford HC, et al.
Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645.
Ann Neurol. 2011.
PMID: 22190369
Free PMC article.
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