Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode‐Shakked, Cynthia M. Powell, Bader Alhaddad, Annette Seibt, Ortal Barel, Gali Heimer, Chen Hoffmann, Laurie Demmer, Yezmin Perilla‐Young, Marc Remke, Dagmar Wieczorek, Tharsini Navaratnarajah, Peter Lichtner, Dirk Klee, Hanan E. Shamseldin, Fuad Al Mutairi, Ertan Mayatepek, Tim M. Strom, Thomas Meitinger, Fowzan S. Alkuraya, Yair Anikster, Alan R. Saltiel, Felix Distelmaier
Topics & Concepts
HypotoniaPhenotypeBiologyWest SyndromeIntellectual disabilityNeurodevelopmental disorderNeuroscienceGeneticsEpilepsyGeneCellular transport and secretionCell death mechanisms and regulationGenomics and Rare Diseases