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Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

Autor: Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M., Taft, Ryan J.

Publikováno v: In Pediatric Neurology January 2014 50(1):112-114

Contributors

Autor: Abu-Arafeh, Ishaq, Archer, N., Arkwright, Peter D., Auchterlonie, Ian A., Baker, Alastair J., Beath, Susan V., Beattie, Thomas F., Becher, Julie-Clare, Bisset, W. Michael, Blair, Peter S., Bolton-Maggs, Paula H.B., Brand, Paul L.P., Bruce, Colin E., Budge, Helen, Buist, Neil R.M., Burrows, Nigel Peter, Bush, Andrew, Butler, Gary, Cale, Catherine M., Campbell, Harry, Cant, Andrew J., Clarke, Michael, Cleary, Andrew Gavin, Coulter, J. Brian S., Coutts, Jonathan, Coward, Richard, Craig, Finella, David, Timothy J., Davidson, Joyce E., Davies, E. Graham, Dudley, Jan, Duell, P. Barton, Elphick, Heather, Embleton, Nicholas D., Enns, Gregory M., Farrar, Jeremy, Ferrie, Colin D., Fielder, Alistair R., Fleck, Brian W., Fleming, Peter J., Foster, Caroline, Freer, Yvonne, Ganesan, Vijeya, Garden, Anne S., Gennery, Andrew R., Gibb, Diana, Gibson, K. Michael, Golden, Barbara, Goldsmid, John M., Govan, John R.W., Graham, Stephen M., Green, Anne, Grompe, Marcus, Halliday, Henry L., Halsey, Christina, Harding, Cary O., Hart, C. Anthony, Heath, Paul T., Helms, Peter J., Henderson, John, Hilliard, Tom, Hoare, Peter, Howard, Richard F., Hughes, Imelda, Hume, Robert, Inward, Carol, Isaacs, David, Ismayl, Omar, Jenkins, Huw R., Jones, Cheryl A., Kelnar, Christopher J.H., Kemp, Alison M., Kerr, Alastair I.G., Kesson, Alison M., Kibel, Maurice A., Kitchiner, Denise, Klein, Nigel J., Koeller, David M., Kotecha, Sailesh, Kotloff, Karen, Laing, Ian A., Lalloo, David G., Leaf, Alison, Levene, Malcolm I., Linck, Leesa M., Livingston, John H., Logan, Stuart, Lockwood, Diana N.J., Lyon, Andrew J., Lyons, Ronan, Macdonald, Anita, McGraw, Mary, McHugh, Keiran, McIntosh, Neil, Mackinlay, G.A., McKinley, Ian, McLean, Sheila A.M., Maguire, Sabine, Main, Janice, Makin, Guy, Martland, Timothy, Mekasha, Amha, Mellis, Craig, Meyer, Stefan, Mills, Alan E., Molyneux, Elizabeth, Molyneux, Malcolm E., Mulholland, Kim, Mulvihill, Alan O., Newton, Richard W., Nicoll, Angus, Paton, James Y., Patton, Michael A., Pearl, Philip L., Pearson, Gale A., Petrou, Stavros, Ramage, Ian J., Reilly, John J., Rennie, J.M., Richmond, Sam, Roberts, Irene A.G., Rudd, Peter T., Robson, S.C., Roullet, Jean-Baptiste, Rylance, George, Saleem, Moin A., Salt, Alison, Sargent, Jenefer, Shafiq, Ayad, Skinner, Jonathan R., Smyth, Alan, Smyth, Rosalind L., Steiner, Robert D., Stenson, Ben, Stephenson, Terence, Stick, Stephen, Sturgiss, Stephen, Sweet, David, Thomas, Angela E., Tooley, James, Tizard, E. Jane, Viner, Russell, Webster, Rachel, Welsby, Philip D., Wildhaber, Johannes, Williams, Anthony F., Wills, Bridget A., Wilson, David C., Wood, Rachael, Wren, Christopher

Publikováno v: In Forfar & Arneil's Textbook of Pediatrics:xv-xix