No association between SCN9A and monogenic human epilepsy disorders

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.(Asn64...

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Veröffentlicht in:	PLoS genetics 2020-11, Vol.16 (11), p.e1009161
Hauptverfasser:	Fasham, James, Leslie, Joseph S, Harrison, Jamie W, Deline, James, Williams, Katie B, Kuhl, Ashley, Scott Schwoerer, Jessica, Cross, Harold E, Crosby, Andrew H, Baple, Emma L
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Substitution Amish - genetics Analysis Biobanks Biology and Life Sciences Child Child, Preschool Children Convulsions & seizures Copy number Diagnostic Errors - prevention & control DNA microarrays Epilepsy Epilepsy - diagnosis Epilepsy - genetics Exome Sequencing Family counseling Family medical history Female Follow-Up Studies Gene Frequency Genes Genetic aspects Genetic Predisposition to Disease Genetic Testing - methods Genomes Genomics Heterozygote Humans Hybridization Infant Linkage analysis Male Medicine and Health Sciences Mutation NAV1.7 Voltage-Gated Sodium Channel - genetics Pedigree Phenotypes Polymorphism, Single Nucleotide Seizures Sodium channels Sodium channels (voltage-gated) Temporal lobe Wisconsin
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