ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 27 citations in OpenAlex.
- A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.bioRxiv : the preprint server for biology · 2025Article
- Molecular and cellular context influences SCN8A variant function.JCI insight · 2024Article
- Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.Genome medicine · 2021Article
- Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.Molecular genetics & genomic medicine · 2020Review
- A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.Epilepsy currents · 2020Article
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.Epilepsia · 2019Article
- Pitfalls of clinical exome and gene panel testing: alternative transcripts.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants inNPJ genomic medicine · 2019Article
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
PurposeAs part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected parents to identify molecular diagnoses not provided in the initial diagnostic interpretation.MethodsWe compiled and analyzed exome sequence data from 54 genetically undiagnosed trios using a validated analysis pipeline. We evaluated the significance of the genetic findings by reanalyzing sequence data generated at Ambry Genetics, and from a number of additional case and control cohorts.ResultsIn 54 previously undiagnosed trios, we identified two de novo missense variants in SCN8A in the highly expressed alternative exon 5 A-an exon only recently added to the Consensus Coding Sequence database. One additional undiagnosed epilepsy patient harboring a de novo variant in exon 5 A was found in the Ambry Genetics cohort. Missense variants in SCN8A exon 5 A are extremely rare in the population, further supporting the pathogenicity of the de novo alterations identified.ConclusionThese results expand the range of SCN8A variants in epileptic encephalopathy patients and illustrate the necessity of ongoing reanalysis of negative exome sequences, as advances in the knowledge of disease genes and their annotations will permit new diagnoses to be made.
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