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References

These sources were used to develop the Genetics Home Reference condition summary on megalencephalic leukoencephalopathy with subcortical cysts.

Gorospe JR, Maletkovic J. Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 2006;12(2):113-22. Review. PubMed citation
Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum Mutat. 2006 Jun;27(6):505-12. PubMed citation
Montagna G, Teijido O, Eymard-Pierre E, Muraki K, Cohen B, Loizzo A, Grosso P, Tedeschi G, Palacín M, Boespflug-Tanguy O, Bertini E, Santorelli FM, Estévez R. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Hum Mutat. 2006 Mar;27(3):292. PubMed citation
Pascual-Castroviejo I, van der Knaap MS, Pronk JC, García-Segura JM, Gutiérrez-Molina M, Pascual-Pascual SI. Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings. Neurologia. 2005 Jan-Feb;20(1):33-40. PubMed citation
Singhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol. 2003 Sep;18(9):646-52. Review. PubMed citation
Yalçinkaya C, Yüksel A, Comu S, Kiliç G, Cokar O, Dervent A. Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts. Seizure. 2003 Sep;12(6):388-96. PubMed citation

Reviewed: November 2008

Published: May 20, 2013