Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations. [electronic resource]
- Epilepsy & behavior : E&B 02 2018
- 169-173 p. digital
Publication Type: Journal Article
1525-5069
10.1016/j.yebeh.2017.12.012 doi
Adult Carbohydrate Metabolism, Inborn Errors--genetics Epilepsy, Generalized--complications Female Genetic Variation--genetics Glucose Transporter Type 1--genetics Humans Male Monosaccharide Transport Proteins--deficiency Mutation Phenotype Seizures--etiology