Associated Papers
Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.
Sun Y et al.
Epilepsia Open, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.
Nguyen YTM et al.
Scientific Reports, 2024
Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons.
van Berkel AA et al.
Biological Psychiatry Global Open Science, 2024
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
Kessi M et al.
Bmc Medical Genomics, 2023
Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy.
Nam JY et al.
Epilepsy Research, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Lu D et al.
Orphanet Journal of Rare Diseases, 2020
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
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.
Chen X et al.
Human Mutation, 2019
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
Jang SS et al.
Frontiers in Neurology, 2019
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Zhu X et al.
Plos Genetics, 2017
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT et al.
Jama Pediatrics, 2017
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.
Dimassi S et al.
Applied & Translational Genomics, 2015
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N et al.
European Journal of Medical Genetics, 2015
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Han F et al.
Zhonghua Yi Xue Za Zhi, 2014
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
A novel STXBP1 mutation causes focal seizures with neonatal onset.
Vatta M et al.
Journal of Child Neurology, 2012
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Mignot C et al.
Epilepsia, 2011
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Saitsu H et al.
Epilepsia, 2010
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A et al.
Human Mutation, 2007