Publications by authors named "F Potet"
Pathogenic variants in voltage-gated sodium (NaV) channel genes including SCN2A, encoding NaV1.2, are discovered frequently in neurodevelopmental disorders with or without epilepsy. SCN2A is also a high-confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disability (ID).
View Article and Find Full Text PDFPathogenic variants in neuronal voltage-gated sodium (Na ) channel genes including , which encodes Na 1.2, are frequently discovered in neurodevelopmental disorders with and without epilepsy. is also a high confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disability (ID).
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- Brugada syndrome (BrS) is a serious heart condition linked to sudden death in young adults, with few known genetic factors beyond the SCN5A gene.
- A large study involving 2,820 BrS cases and 10,001 controls revealed 21 genetic signals across 12 locations, suggesting a strong genetic component to the disorder.
- Key findings highlight the importance of transcription regulation in BrS development and introduce microtubule-related mechanisms that affect the expression of a key cardiac protein, shedding light on the disorder's genetic and molecular basis.
Importance: Postmortem genetic testing of young individuals with sudden death has previously identified pathogenic gene variants. However, prior studies primarily considered highly penetrant monogenic variants, often without detailed decedent and family clinical information.
Objective: To assess genotype and phenotype risk in a diverse cohort of young decedents with sudden death and their families.