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Article

Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.

Human molecular genetics - 18 May 2024

Öttl Miriam, Toonen Ruud F, Verhage Matthijs

Abstract excerpt

MUNC18-1 is an essential protein of the regulated secretion machinery. De novo, heterozygous mutations in STXBP1, the human gene encoding this protein, lead to a severe neurodevelopmental disorder. Here, we describe the electrophysiological characteristics of a unique case of STXBP1-related disorder caused by a homozygous mutation (L446F). We engineered this mutation in induced pluripotent stem cells from a...

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Identifiers

PMID: 38484778
DOI: 10.1093/hmg/ddae035
PMCID: PMC11102591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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