Article
Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review.
Genes - 18 Sept 2024
Sirchia Fabio, Taietti Ivan, Donesana Myriam, Bassanese Francesco, Clemente Andrea Martina, Barbato Eliana, Orsini Alessandro, Ferretti Alessandro, Marseglia Gian Luigi, Savasta Salvatore, Foiadelli Thomas
Abstract excerpt
BACKGROUND: Developmental and epileptic encephalopathies (DEE) are a group of disorders often linked to de novo mutations, including those in the ATP6V1A gene. These mutations, particularly dominant gain-of-function (GOF) variants, have been associated with a spectrum of phenotypes, ranging from severe DEE and infantile spasms to milder conditions like autism spectrum disorder and language delays. METHODS: We aim...
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