| Rochtus A et. al., Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort., Epilepsia, 2020 |
| Değerliyurt A et. al., Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation., Turk J Pediatr, 2019 |
| Benson KA et. al., A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability., Eur J Hum Genet, 2020 |
| Stödberg T et. al., Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study., Epilepsia, 2020 |
| Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020 |
| Gburek-Augustat J et. al., Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome., Eur J Paediatr Neurol, 2016 |
| Di Meglio C et. al., Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases., Epilepsia, 2015 |
| Barcia G et. al., A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency., Eur J Med Genet, 2013 |
| Tan CA et. al., Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis., Clin Genet, 2016 |
| Møller RS et. al., Parental mosaicism in epilepsies due to alleged de novo variants., Epilepsia, 2019 |
| Boutry-Kryza N et. al., Molecular characterization of a cohort of 73 patients with infantile spasms syndrome., Eur J Med Genet, 2015 |
| Olson HE et. al., Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome., Am J Med Genet A, 2015 |
| Ostrander BEP et. al., Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy., NPJ Genom Med, 2018 |
| Costain G et. al., Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy., Neuroscience, 2019 |
| Demos M et. al., Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy., Front Neurol, 2019 |
| Trump N et. al., Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis., J Med Genet, 2016 |
| Lionel AC et. al., Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test., Genet Med, 2018 |
| Wang J et. al., Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome., Seizure, 2019 |
| Srivastava S et. al., Clinical whole exome sequencing in child neurology practice., Ann Neurol, 2014 |
| Helbig KL et. al., Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy., Genet Med, 2016 |
| Kodera H et. al., Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy., Epilepsia, 2013 |
| Saitsu H et. al., STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern., Epilepsia, 2010 |
| Boonsawat P et. al., Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly., Genet Med, 2019 |
| Trujillano D et. al., Clinical exome sequencing: results from 2819 samples reflecting 1000 families., Eur J Hum Genet, 2017 |
| Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015 |
| Yuen RK et. al., Whole-genome sequencing of quartet families with autism spectrum disorder., Nat Med, 2015 |
| Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019 |
| Weckhuysen S et. al., Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers., Epilepsia, 2013 |
| Lemke JR et. al., Targeted next generation sequencing as a diagnostic tool in epileptic disorders., Epilepsia, 2012 |
| Jang SS et. al., Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life., Front Neurol, 2019 |
| Allen AS et. al., De novo mutations in epileptic encephalopathies., Nature, 2013 |
| Vanderver A et. al., Whole exome sequencing in patients with white matter abnormalities., Ann Neurol, 2016 |
| Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018 |
| Hamdan FF et. al., De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy., Ann Neurol, 2009 |
| Deprez L et. al., Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations., Neurology, 2010 |
| Campbell IM et. al., Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A., Genet Med, 2012 |
| Valence S et. al., Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies., Genet Med, 2019 |
| Chen X et. al., A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy., Hum Mutat, 2019 |
| Hamdan FF et. al., Intellectual disability without epilepsy associated with STXBP1 disruption., Eur J Hum Genet, 2011 |
| Hamdan FF et. al., Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability., Am J Hum Genet, 2011 |
| Munnich A et. al., Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder., Mol Autism, 2019 |
| Ko A et. al., Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy., Epilepsy Res, 2018 |
| Balciuniene J et. al., Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy., JAMA Netw Open, 2019 |
| Wang Y et. al., Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing., Sci Rep, 2017 |
| Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016 |
| Carvill GL et. al., Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1., Nat Genet, 2013 |
| Yuge K et. al., A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl., Brain Dev, 2018 |
| Saitsu H et. al., Paternal mosaicism of an STXBP1 mutation in OS., Clin Genet, 2011 |
| Michaud JL et. al., The genetic landscape of infantile spasms., Hum Mol Genet, 2014 |
| Jiang T et. al., Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy., Front Mol Neurosci, 2021 |
| Zhao X et. al., Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing., Neurol Sci, 2022 |
| et. al., , , |
