Article
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Epilepsia - 1 May 2008
Jansen An C, Andermann Eva, Niel Florence, Creveaux Isabelle, Boespflug-Tanguy Odile, Andermann Frederick
Abstract excerpt
Leucoencephalopathy with vanishing white matter (VWM) is caused by mutations in the genes encoding for one of the five subunits that constitute the eukaryotic initiation factor 2B (eIF2B), and is characterized by a highly suggestive MRI pattern indicating vanishing of the cerebral white matter. Seizures are well known to occur in VWM disease, but usually do not represent a prominent feature. We report a...
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