Publications by authors named "Anna Munzig"
Introduction: Next generation sequencing (NGS) with customized gene panels is a helpful tool to identify monogenic epilepsy syndromes. The number of genes tested within a customized panel may vary greatly. The aim of the present study was to compare the diagnostic yield of small (<25 kb) and large (>25 kb) customized epilepsy panels.
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- - The RASopathies are genetic syndromes caused by heightened RAS signaling, with Noonan syndrome (NS) being the most common, characterized by short stature, heart issues, and unique facial features.
- - Two unrelated patients presenting with hypertrophic cardiomyopathy (HCM) and features of NS had newly identified MRAS gene mutations linked to their condition, with one patient dying from cardiac failure shortly after birth.
- - The study revealed that certain MRAS mutations caused excessive activation of RAS signaling pathways, suggesting that MRAS should be added to the list of genes associated with NS and HCM, highlighting the importance of the MRAS-SHOC2-PPP1CB signaling pathway.