Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Published in:

Nature Genetics, 2004, v. 36, n. 11, p. 1225, doi. 10.1038/ng1460

By:

• Simpson, Michael A.;
• Cross, Harold;
• Proukakis, Christos;
• Priestman, David A.;
• Neville, David C. A.;
• Reinkensmeier, Gabriele;
• Heng Wang;
• Wiznitzer, Max;
• Gurtz, Kay;
• Verganelaki, Argyro;
• Pryde, Anna;
• Patton, Michael A.;
• Dwek, Raymond A;
• Butters, Terry D.;
• Platt, Frances M.;
• Crosby, Andrew H.

Publication type:

Article