| Na JH et. al., Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy., Brain Dev, 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 |
| Riva D et. al., Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes., Am J Med Genet A, 2009 |
| Møller RS et. al., Parental mosaicism in epilepsies due to alleged de novo variants., Epilepsia, 2019 |
| Lim BC et. al., SCN1A mutational analysis in Korean patients with Dravet syndrome., Seizure, 2011 |
| Le Gal F et. al., A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation., Epilepsia, 2010 |
| Kumakura A et. al., Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus., Brain Dev, 2009 |
| Gökben S et. al., An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy., Neuropediatrics, 2009 |
| Gitiaux C et. al., Motor neuropathy contributes to crouching in patients with Dravet syndrome., Neurology, 2016 |
| Fujiwara T et. al., Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures., Brain, 2003 |
| de Lange IM et. al., Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes., Epilepsia, 2018 |
| Ceulemans B et. al., Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine., Epilepsia, 2016 |
| Barba C et. al., Co-occurring malformations of cortical development and SCN1A gene mutations., Epilepsia, 2014 |
| Ozmen M et. al., Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients., Ann Indian Acad Neurol, 2011 |
| McArdle EJ et. al., Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy., Am J Med Genet A, 2008 |
| Balestrini S et. al., Audit of use of stiripentol in adults with Dravet syndrome., Acta Neurol Scand, 2017 |
| Willemsen MH et. al., Adult Phenotypes in Angelman- and Rett-Like Syndromes., Mol Syndromol, 2012 |
| Kwong AK et. al., Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome., PLoS One, 2012 |
| Do TT et. al., SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome., J Clin Neurol, 2017 |
| 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 |
| 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 |
| D'Gama AM et. al., Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms., Neuron, 2015 |
| van Egmond ME et. al., Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment., Eur J Paediatr Neurol, 2015 |
| Sharkia R et. al., Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report., J Med Case Rep, 2016 |
| Xiong Z et. al., Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A., J Neurol Sci, 2016 |
| Usluer S et. al., SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations., Seizure, 2016 |
| 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 |
| Peng J et. al., Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy., CNS Neurosci Ther, 2019 |
| Yang L et. al., Clinical and genetic spectrum of a large cohort of children with epilepsy in China., Genet Med, 2019 |
| Mahdieh N et. al., Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis., Clin Neurol Neurosurg, 2018 |
| Jiang T et. al., Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome., Medicine (Baltimore), 2018 |
| Allen AS et. al., De novo mutations in epileptic encephalopathies., Nature, 2013 |
| Passamonti C et. al., A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?, Epilepsy Behav, 2015 |
| Hesse AN et. al., Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel., Epilepsy Res, 2018 |
| Fry AE et. al., Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy., BMC Med Genet, 2016 |
| Carvill GL et. al., Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1., Nat Genet, 2013 |
| Coe BP et. al., Refining analyses of copy number variation identifies specific genes associated with developmental delay., Nat Genet, 2014 |
| Jiang P et. al., Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation., Clin Neurol Neurosurg, 2016 |
| Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019 |
| Nouri N et. al., Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy., Epilepsy Res, 2021 |
| Jiang T et. al., Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy., Front Mol Neurosci, 2021 |
| Nejabat M et. al., Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran., Front Pediatr, 2021 |
| Al Zahrani H et. al., Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population., Mol Genet Metab, 2021 |
| May HJ et. al., Genetic testing in individuals with cerebral palsy., Dev Med Child Neurol, 2021 |
| Lee HF et. al., Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders., Dev Med Child Neurol, 2021 |
| Moreno-De-Luca A et. al., Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy., JAMA, 2021 |
| Lee J et. al., Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing., Ann Clin Lab Sci, 2020 |
| Sun D et. al., Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies., Front Pediatr, 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 |
| Brea-Fernández AJ et. al., Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability., Eur J Hum Genet, 2022 |
| Mulley JC et. al., A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A., Neurology, 2006 |
| et. al., , , |
