Associated Papers
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.
Mauri A et al.
International Journal of Molecular Sciences, 2022
36362347 (PubMed )
Supplement: ijms-23-13560-s001.zip › Figure_S1.pdf
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Symonds JD et al.
Brain : a Journal of Neurology, 2019
31302675 (PubMed )
Supplement: awz195_supplementary_data.zip › awz195-suppl_data › awz195_Supplementary_Table.pdf
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.
Di Vito L et al.
Epilepsy & Behavior : E&b, 2018
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.
Koy A et al.
Developmental Medicine and Child Neurology, 2011
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