Associated Papers
Biochemical analysis of a TrkB receptor mutation that causes a developmental epileptic encephalopathy.
Huang YZ et al.
The Journal of Biological Chemistry, 2026
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.
Berger E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Mutation in the TRKB Cholesterol Recognition Site that blocks Antidepressant Binding does not Influence the Basal or BDNF-Stimulated Activation of TRKB.
Biojone C et al.
Cellular and Molecular Neurobiology, 2023
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Clinical and electroencephalographic characteristics of 34 infant with onset of epileptic spasms before three months of age.
Chen M et al.
Epilepsy & Behavior : E&b, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.
Long A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2022
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Rahman MM et al.
Journal of Epilepsy Research, 2021
Cholesterol-recognition motifs in the transmembrane domain of the tyrosine kinase receptor family: The case of TRKB.
Cannarozzo C et al.
The European Journal of Neuroscience, 2021
The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.
Muthaffar OY
Balkan Journal of Medical Genetics : Bjmg, 2020
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM et al.
Clinical Genetics, 2018
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017