STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons
Carolin Haag, Felix Gsell, Oleg Vinogradov, Morgana Barroso Oquendo et autres
BACKGROUND: Variants in STX1B/syntaxin-1B are linked to a spectrum of fever-associated epilepsy syndromes. While studies in murine models have provided mechanistic insights, their relevance to human disease in a heterozygous context may be limited. METHODS: We investigated two pathogenic STX1B variants using …
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