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Objective
SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype–phenotype associations remain poorly understood.
Methods
We assessed data from a retrospective cohort of 1018 individuals with SCN1A‐related epilepsies...
Objective
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy, leading to reduced health‐related quality of life (HRQOL). Prospective outcome data on HRQOL are sparse, and this study investigated long‐term predictors of HRQOL in DS.
Methods
One hundred thirteen families of SCN1A‐positive patients with DS, who were recruited as part of our 2010 study were contacted at 10‐year...
Objective
Voltage‐gated sodium channels (SCNs) share similar amino acid sequence, structure, and function. Genetic variants in the four human brain‐expressed SCN genes SCN1A/2A/3A/8A have been associated with heterogeneous epilepsy phenotypes and neurodevelopmental disorders. To better understand the biology of seizure susceptibility in SCN‐related epilepsies, our aim was to determine similarities...
Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS). Predicting disease outcomes based on variant type remains challenging. Despite thousands of SCN1A variants being reported, only a minority has been functionally assessed.
We...
Objective
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug‐resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also...
Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS+) to the severe infant‐onset epilepsy Dravet syndrome. Evidence has emerged of the consequences of SCN1α dysfunction in different neuronal networks across...
Purpose: Health‐related quality of life (HRQOL) has emerged as a widely accepted measure to evaluate how chronic disease impacts on an individual’s physical, social, and mental well‐being. There is a paucity of data focusing on HRQOL in specific epilepsy syndromes and their associated needs. In this study our aim was to describe the comorbidities and disease‐related predictors for HRQOL in Dravet...
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