No association between SCN9A and monogenic human epilepsy disorders.

PLoS Genetics
James FashamEmma L Baple

Abstract

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, have been identified as a likely autosomal dominant cause of febrile seizures/febrile seizures plus and other monogenic seizure phenotypes indistinguishable from those associated with SCN1A, leading to inclusion of SCN9A on epilepsy gene testing panels. Here we present serendipitous findings of genetic studies that identify the SCN9A c.1921A>T p.(Asn641Tyr) variant at high frequency in the Amish community in the absence of such seizure phenotypes. Together with findings in UK Biobank these data refute an association of SCN9A with epilepsy, which has important clinical diagnostic implications.

References

Mar 30, 2004·Annals of Neurology·Samuel F BerkovicIngrid E Scheffer
May 10, 2005·Human Mutation·John C MulleyLouise A Harkin
Dec 6, 2005·Proceedings of the National Academy of Sciences of the United States of America·Massimo MantegazzaAldo Quattrone
Dec 15, 2006·Nature·James J CoxC Geoffrey Woods
Feb 24, 2009·Proceedings of the National Academy of Sciences of the United States of America·John C OakleyWilliam A Catterall
Jun 24, 2011·Annals of Neurology·Catharina G FaberIngemar S J Merkies
Oct 26, 2013·Neurobiology of Disease·Carlos G VanoyeJennifer A Kearney
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
Nov 26, 2016·Genome Biology·Mohamed AbouelhodaFowzan S Alkuraya
Jan 14, 2017·Neuroscience Letters·Simona Balestrini, Sanjay M Sisodiya
Jul 14, 2017·Seizure : the Journal of the British Epilepsy Association·Zhidong CenJianhua Feng
Mar 4, 2018·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Cuiwei YangPeifang Jiang
Mar 6, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Zhigang LiuPingming Gao
Aug 6, 2019·JAMA Neurology·Hugh KearneyNorman Delanty
Nov 5, 2019·Nature Genetics·Antonio Rueda MartinEllen M McDonagh
Mar 14, 2020·Pediatric Neurology·James W WhelessBasanagoud D Mudigoudar

❮ Previous
Next ❯

Citations

Jun 26, 2021·Seizure : the Journal of the British Epilepsy Association·A Brunklaus

❮ Previous
Next ❯

Software Mentioned

ClinGen
Genomics England PanelApp
ClinVar
gnomAD

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Seizure : the Journal of the British Epilepsy Association
A Brunklaus
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Zhigang LiuPingming Gao
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Cuiwei YangPeifang Jiang
European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
A M de RooijA M J M van den Maagdenberg
© 2021 Meta ULC. All rights reserved