Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS04_het
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Damiano JA et al.
Annals of Neurology, 2020
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Lin WD et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Chou IC et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Lin WD et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Chou IC et al.
Human Genetics, 2010
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg A et al.
American Journal of Human Genetics, 2001
Select a paper to view details