Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
STX1B-related epilepsy in a 24-month-old female infant.
Burghardt K et al.
Epilepsy & Behavior Reports, 2021
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S et al.
Neurology, 2019
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