Article
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain : a journal of neurology - 1 Dec 2023
Stefanski Arthur, Pérez-Palma Eduardo, Brünger Tobias, Montanucci Ludovica, Gati Cornelius, Klöckner Chiara, Johannesen Katrine M, Goodspeed Kimberly, Macnee Marie, Deng Alexander T, Aledo-Serrano Ángel, Borovikov Artem, Kava Maina, Bouman Arjan M, Hajianpour M J, Pal Deb K, Engelen Marc, Hagebeuk Eveline E O, Shinawi Marwan, Heidlebaugh Alexis R, Oetjens Kathryn, Hoffman Trevor L, Striano Pasquale, Freed Amanda S, Futtrup Line, Balslev Thomas, Abulí Anna, Danvoye Leslie, Lederer Damien, Balci Tugce, Nouri Maryam Nabavi, Butler Elizabeth, Drewes Sarah, van Engelen Kalene, Howell Katherine B, Khoury Jean, May Patrick, Trinidad Marena, Froelich Steven, Lemke Johannes R, Tiller Jacob, Freed Amber N, Kang Jing-Qiong, Wuster Arthur, Møller Rikke S, Lal Dennis
Abstract excerpt
Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making. We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.