Associated Papers
Clinical and genetic analysis of epilepsy in children with SCN8A gene variants.
Li R et al.
Seizure, 2026
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB et al.
Biology Open, 2024
38466077 (PubMed )
Supplement: biolopen-13-060286-TableS1.xlsx › Sheet1
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liu L et al.
Molecular Genetics & Genomic Medicine, 2021
33951346 (PubMed )
Supplement: MGG3-9-e1689-s001.xls › Suppl._Table_5
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.
Solé L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
32853554 (PubMed )
Supplement: mmc2.xlsx › S6
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
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
29186148 (PubMed )
Supplement: pgen.1007104.s002.xlsx › S1_Table
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E et al.
Annals of Neurology, 2016
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.
O'Brien JE et al.
Frontiers in Genetics, 2013
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