Article

<i>SCN1A</i> -deficient hiPSC-derived excitatory neuronal networks display mutation-specific phenotypes

2023-01-12

Abstract excerpt

Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioral problems and developmental delay. 80% of Dravet syndrome patients have a mutation in SCN1A , encoding Na V 1.1. Milder clinical phenotypes, such as GEFS + (generalized epilepsy with febrile seizures plus), can also arise from SCN1A mutation s . Predicting the clinical phenotypic outcome based on the type of m...

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Literature Corpus work: cc18cf43-5b98-5ae1-8898-a8a37e4768cf
DOI: 10.1101/2023.01.11.523598

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