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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

2020The American Journal of Human Genetics35 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaPhenotypeBiologyWest SyndromeIntellectual disabilityNeurodevelopmental disorderNeuroscienceGeneticsEpilepsyGeneCellular transport and secretionCell death mechanisms and regulationGenomics and Rare Diseases
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities | Litcius