Epileptic phenotypes associated with SNAREs and related synaptic vesicle exocytosis machinery
SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an
heterogeneous family of proteins that, together with their key regulators, are implicated in …
heterogeneous family of proteins that, together with their key regulators, are implicated in …
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
KM Thalwitzer, JH Driedger, J Xian, A Saffari… - Neurology, 2023 - AAN Enterprises
Background and Objectives Pathogenic variants in STXBP1 are among the major genetic
causes of neurodevelopmental disorders. Despite the increasing number of individuals …
causes of neurodevelopmental disorders. Despite the increasing number of individuals …
[HTML][HTML] STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy
R Spaull, D Steel, K Barwick, P Prabhakar… - Movement Disorders …, 2022 - ncbi.nlm.nih.gov
STXBP1 encodes syntaxin-binding protein 1, a brain-expressed membrane trafficking
protein that facilitates presynaptic vesicle docking in neurotransmission. Heterozygous loss …
protein that facilitates presynaptic vesicle docking in neurotransmission. Heterozygous loss …
A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy
G Suo, X Cao, Y Zheng, H Li, Q Zhang, J Tang, Y Wu - Epilepsy & Behavior, 2021 - Elsevier
Mutations in syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to
multiple neurodevelopmental disorders, including severe early-onset epileptic …
multiple neurodevelopmental disorders, including severe early-onset epileptic …
Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders
H Wang, X Chen, Z Liu, C Chen, X Liu… - Frontiers in …, 2023 - frontiersin.org
STXBP1 variants are one of the most common genetic causes of neurodevelopmental
disorders and epilepsy, wherein STXBP1-related disorders are characterized by …
disorders and epilepsy, wherein STXBP1-related disorders are characterized by …
The genetics of idiopathic intracranial hypertension (IIH): Integration of population studies and clinical data
R Zucker, M Kovalerchik, Z Davidovich, E Banne… - medRxiv, 2023 - medrxiv.org
Background Idiopathic intracranial hypertension (IIH) is a condition characterized by
increased intracranial pressure without a known cause. IIH mainly affects overweight and …
increased intracranial pressure without a known cause. IIH mainly affects overweight and …
A requirement for Syntaxin 4 during vertebrate development and cardiomyocyte conduction
E Perl - 2022 - search.proquest.com
Soluble N-ethylmaleimide-sensitive factor protein receptors (SNAREs) comprise a
universally conserved complex of proteins that are key components of the cellular machinery …
universally conserved complex of proteins that are key components of the cellular machinery …
De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy.
S Yimenicioglu, A Kocaaga - Neurology Asia, 2023 - search.ebscohost.com
Syntaxin-binding protein 1, encoded by STXBP1, is widely expressed in the brain and plays
a critical function in regulating neurotransmitter release and synaptic vesicle fusion by …
a critical function in regulating neurotransmitter release and synaptic vesicle fusion by …