Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.
Di Vito, Lidia
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
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