Associated Papers
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_4.xlsx › Blad1
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
35190816 (PubMed )
Supplement: awab327_supplementary_data.zip › brain-2021-00642-File011.xlsx › Table_S1_Genotype_Data
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
32643187 (PubMed )
Supplement: supplement_1.pdf
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Houtman SJ et al.
Frontiers in Physiology, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
Al Mehdi K et al.
Biomed Research International, 2019
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