Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy
Year: 2024
Type: article
Authors: Carlos Dominguez Gonzalez, Leslie E. Sanderson, Raffaella Depace, Guy Helman, Kaiyuan Wu, Brianna Disanza, Amy Pizzino, Johanna Schmidt, Kayla Muirhead, Joshua Bonkowsky, Ryan Taft, Nouriya Sannaa, Patrícia Dias, Mehmet Burak Mutlu, Aida M. Bertoli-Avella, Reza Maroofian, Tahsin Stefan Barakat, Elizabeth Bhoj, Rebecca Ahrens-Nicklas, Cas Simons, Ernst Wolvetang, Michael N. Sack, Tjakko van Ham, Nicole Hsiao-Sánchez, Juan S. Bonifacino, Adeline Vanderver
Institutions: Children's Hospital of Philadelphia, Erasmus MC, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Heart, Lung, and Blood Institute, University of Utah, Illumina (United States), Saudi Aramco Medical Services Organization, Centro Hospitalar Lisboa Norte, Centogene (Germany), University College London, Murdoch Children's Research Institute
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W4393928752