Inherited Metabolic Epilepsies

作者: Phillip L. Pearl

DOI:

关键词:

摘要:

参考文章(8)
Darryl De Vivo, Juan M Pascual, Dong Wang, Glucose Transporter Type 1 Deficiency Syndrome University of Washington, Seattle. ,(2015)
K. Shimomura, F. Horster, H. de Wet, S. E. Flanagan, S. Ellard, A. T. Hattersley, N. I. Wolf, F. Ashcroft, F. Ebinger, A novel mutation causing DEND syndrome A treatable channelopathy of pancreas and brain Neurology. ,vol. 69, pp. 1342- 1349 ,(2007) , 10.1212/01.WNL.0000268488.51776.53
Andrew J. Duncan, Inga Harting, Gabriele Wohlrab, Friedrich Ebinger, Dietz Rating, Thomas Bast, Nicole I. Wolf, Shamima Rahman, Bernhard Schmitt, Jan-Willem Taanman, Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia. ,vol. 50, pp. 1596- 1607 ,(2009) , 10.1111/J.1528-1167.2008.01877.X
P. L. Pearl, K. M. Gibson, M. A. Cortez, Y. Wu, O. Carter Snead, I. Knerr, K. Forester, J. M. Pettiford, C. Jakobs, W. H. Theodore, Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men Journal of Inherited Metabolic Disease. ,vol. 32, pp. 343- 352 ,(2009) , 10.1007/S10545-009-1034-Y
S. Kölker, S. W. Sauer, G. F. Hoffmann, I. Müller, M. A. Morath, J. G. Okun, Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism Journal of Inherited Metabolic Disease. ,vol. 31, pp. 194- 204 ,(2008) , 10.1007/S10545-008-0823-Z
Philippa B Mills, Eduard Struys, Cornelis Jakobs, Barbara Plecko, Peter Baxter, Matthias Baumgartner, Michèl A A P Willemsen, Heymut Omran, Uta Tacke, Birgit Uhlenberg, Bernhard Weschke, Peter T Clayton, Mutations in antiquitin in individuals with pyridoxine-dependent seizures Nature Medicine. ,vol. 12, pp. 307- 309 ,(2006) , 10.1038/NM1366
Salvatore DiMauro, Eric A. Schon, Mitochondrial Disorders in the Nervous System Annual Review of Neuroscience. ,vol. 31, pp. 91- 123 ,(2008) , 10.1146/ANNUREV.NEURO.30.051606.094302
Darryl C. De Vivo, Rosario R. Trifiletti, Ronald I. Jacobson, Gabriel M. Ronen, Ramin A. Behmand, Sami I. Harik, Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay New England Journal of Medicine. ,vol. 325, pp. 703- 709 ,(1991) , 10.1056/NEJM199109053251006