Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.K905E
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SCN2A

NM_001040142.2:p.K905E

Associated Papers

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates.

Pijpers JA et al.

Seizure, 2023

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.

Cornet MC et al.

Epilepsia, 2021

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler KM et al.

Pediatric Neurology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."