Epilepsy & Seizures
Gelastic seizures with hypothalamic hamartoma
Nov. 10, 2022
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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The predicted structure of the protein L2HGDH in cartoon (a) and surface mode (b). The mutation site 136 of the protein (shown in red spheres) is located in the pocket (shown in a black ellipse) of the FAD/NAD(P)-binding domain (highlighted in orange). (Source: Peng W, Ma XW, Yang X, et al. Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. BMC Med Genet 2018;19[1]:167. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0.)