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UnknownEarly mortality in STXBP1-related disorders.
Not available
S-EPMC11828786 | biostudies-literature
ProteomicsDDHD2 interacts with STXBP1 to mediate long-term memory via the generation of saturated free fatty acidsDDHD2 interacts with STXBP1 to mediate long-term memory via the generation of saturated free fatty acids
The phospholipid and free fatty acid (FFA) composition of neuronal membranes plays a crucial role in learning and memory, but the mechanisms through which neuronal activity affects the brain's lipid landscape remain largely unexplored. Saturated FFAs, particularly myristic acid (C14:0), strongly inc...
ORGANISM(S): Rattus norvegicus (Rat) 
2024-05-22 | PXD047812 | Pride
Phospholipase a1  free fatty acids  myristic acid  learning and memory Lipids 
UnknownEarly life seizures and epileptic spasms in STXBP1-related disorders.
Not available
S-EPMC11458141 | biostudies-literature
UnknownDelineating clinical and developmental outcomes in STXBP1-related disorders.
Not available
S-EPMC10689925 | biostudies-literature
UnknownDelineating clinical and developmental outcomes in STXBP1-related disorders.
Not available
S-EPMC10197795 | biostudies-literature
GenomicsSingle cell RNA-sequencing reveals neuron type-specific vulnerabilities in a model of STXBP1-related disorder
Single cell RNA-sequencing reveals neuron type-specific vulnerabilities in a model of STXBP1-related disorder
PRJNA1245450 | ENA
UnknownEarly life seizures and epileptic spasms in STXBP1-related disorders.
Not available
S-EPMC10327252 | biostudies-literature
TranscriptomicsSingle cell RNA-sequencing reveals neuron type-specific vulnerabilities in a model of STXBP1-related disorder
STXBP1-related disorder (STXBP1-RD) is a severe neurodevelopmental disorder caused by de novo heterozygous mutations that lead to STXBP1 haploinsufficiency. STXBP1-RD is characterised by developmental delay, intellectual disability, early-onset seizures and autistic features. EEG analysis suggests e...
ORGANISM(S): Mus musculus 
2026-09-22 | GSE293659 | GEO
UnknownA disease concept model for STXBP1-related disorders.
Not available
S-EPMC10235567 | biostudies-literature
UnknownStxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
Not available
S-EPMC7056272 | biostudies-literature
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