Associated Papers
Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients.
Balestrini S et al.
Drugs - Real World Outcomes, 2022
35680739 (PubMed )
Supplement: 40801_2022_305_MOESM1_ESM.pdf
A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.
Miyake N et al.
Clinical Genetics, 2021
Nucleotide Sugar Transporter SLC35 Family Structure and Function.
Hadley B et al.
Computational and Structural Biotechnology Journal, 2019
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
Marini C et al.
American Journal of Medical Genetics. Part A, 2017
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