Associated Papers
A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
Murthy MC et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.
Dong M et al.
Frontiers in Pediatrics, 2022
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.
Kwong AK et al.
Epilepsia Open, 2021
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C et al.
Epilepsia, 2007
Phenotypic features of epilepsy due to sodium channelopathies - A single center experience from India.
Viswanathan LG et al.
Journal of Neurosciences in Rural Practice, 0
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