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• W2026551310 abstract "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 the brain pointing toward a channelopathy model causing the neurologic features of Dravet syndrome that is beyond purely seizure related damage. A genetic change will present according to its severity, the genetic background of the individual, and environmental factors, and will affect a variety of neuronal networks according to channel distribution. This already-vulnerable system may be susceptible to secondary aggravating events such as status epilepticus. The channelopathy model implies that pharmacologic treatment and the restoration of impaired γ-aminobutyric acid (GABA)ergic neurotransmission might not only help prevent seizures but might affect the comorbidities of the syndrome. This critical review explores recent evidence relating to the pathogenicity of SCN1A mutations in Dravet syndrome and the effect these have on the wider disease phenotype and discusses whether knowledge of specific genotypes can influence clinical practice. Genetic technology is currently advancing at unprecedented speed and will increase our knowledge of new genes and interacting genetic networks. Clinicians and geneticists will have to work in close collaboration to guarantee good delivery and counseling of genetic testing results. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here" @default.
• W2026551310 created "2016-06-24" @default.
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• W2026551310 date "2014-05-16" @default.
• W2026551310 modified "2023-09-25" @default.
• W2026551310 title "Dravet syndrome-From epileptic encephalopathy to channelopathy" @default.
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• W2026551310 doi "https://doi.org/10.1111/epi.12652" @default.
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