We have 3 of 85 papers
We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.
Not the right person? Other researchers publish under this name.
HIVEP3 variants are potentially associated with epilepsy and the gene-disease association is supported by genotype-phenotype correlations, damaging effects of the identified variants and their correlated phenotypes, as well as spatiotemporal expression patterns of HIVEP3.
CACNA1C is potentially a candidate causative gene of focal epilepsy and the genotype-phenotype correlation of CACNA1C helps explain phenotypic heterogeneity.
Clinical severity broadly tracks with the predicted structural/biophysical impact of the variant and Munc18‐1 abundance, providing a mechanistic clue for phenotypic heterogeneity in STXBP1‐related disorders.
We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.
