Isolated beta-methylcrotonyl-CoA carboxylase deficiency
Nov. 30, 2023
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Dr. Gonzalo RodrÃguez Lafora
Gonzalo Rodriguez-Lafora (1886-1971) was a neurologist and pathologist at the Provincial Hospital in Madrid. He was born and died in Madrid and worked there except for a few years of study in Germany and France and 3 years in Washington DC, where he was neuropathologist for the National Psychiatric Institute. He described progressive myoclonus epilepsy with characteristic inclusions. (From: Gentry MS, Afawi Z, Armstrong DD et al. The 5th International Lafora Epilepsy Workshop: basic science elucidating therapeutic options and preparing for therapies in the clinic. Epilepsy Behav 2020;103(Pt A):106839.) (Courtesy of Professor Santiago Gimenez Roldan.)