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searching for STXBP1 8 found (18 total)

alternate case: sTXBP1

Shelby Miller (5,528 words) [view diff] exact match in snippet view article find links to article

November 11, 2022, in Cabo. In 2021, Miller's son Kyler was diagnosed with STXBP1 encephalopathy, a rare genetic disorder. Lee, Mike (April 5, 2008). "Not

Stop codon (2,821 words) [view diff] exact match in snippet view article find links to article

Steel, D; Barwick, K; Prabhakar, P; Wakeling, E; Kurian, MA (2022-07-23). "STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder

CASK (2,890 words) [view diff] exact match in snippet view article find links to article

Tohyama J, et al. (June 2008). "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy". Nature Genetics

SLC6A1 epileptic encephalopathy (912 words) [view diff] exact match in snippet view article find links to article

to test if phenylbutyrate is safe and well tolerated in children with STXBP1 encephalopathy and SLC6A1 neurodevelopmental disorder. Pre-clinical and

Naomichi Matsumoto (914 words) [view diff] exact match in snippet view article find links to article

Ogata, K; Matsumoto, N (2008). "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy". Nature Genetics

ETFDH (1,100 words) [view diff] exact match in snippet view article find links to article

flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor - Homo sapiens (Human) - STXBP1 gene & protein". www.uniprot.org. Retrieved 2018-08-29. This article incorporates

Dravet syndrome (4,100 words) [view diff] exact match in snippet view article find links to article

Febrile Seizures Plus (GEFS+), as well as in some Dravet syndrome patients. - STXBP1: This gene encodes the syntaxin-binding protein 1, which is involved in

GABRB2 (5,576 words) [view diff] exact match in snippet view article find links to article

Bonati MT, Marchi M, Cracco I, et al. (July 2019). "Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like