Associated Papers
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 2024
37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2
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
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
32643187 (PubMed )
Supplement: supplement_1.pdf
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review.
Liu S et al.
Medicine, 2018
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H et al.
Epilepsia, 2013
A novel STXBP1 mutation causes focal seizures with neonatal onset.
Vatta M et al.
Journal of Child Neurology, 2012
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Saitsu H et al.
Epilepsia, 2010
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