Article
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.
Molecular genetics & genomic medicine - 1 Oct 2021
Rodrigues Bento Jotte, Feben Candice, Kempers Marlies, van Rij Maartje, Woiski Mallory, Devriendt Koenraad, De Catte Luc, Baldewijns Marcella, Alaerts Maaike, Meester Josephina, Verstraeten Aline, Hendson Willy, Loeys Bart
Abstract excerpt
BACKGROUND: KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro-intestinal, cardiovascular, and neurological manifestations. METHODS: Whole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting with diverse phenotypical manifestations that did not fit into well-known clinical entities. RESULTS: In an 8-year-old boy...
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