Article
Phenotype Spectrum of TRPM3-Associated Disorders.
Annals of neurology - 1 Mar 2025
Jolitz Laura, Helbig Ingo, Fitzgerald Mark P, McKeown Ruggiero Sarah, Cohen Stacey, Angelini Chloe, Vallespin Elena, Michaud Vincent, Gerasimenko Anna, Cogne Benjamin, Isidor Bertrand, Keren Boris, Dyment David, Heron Delphine, Karstensen Helena Gásdal, Cuppen Inge, Christodoulou John, Wilson Meredith, Lake Nicole J, Biskup Saskia, Syrbe Steffen, Mori Takayasu, Becker Lena-Luise, Kaindl Angela M
Abstract excerpt
OBJECTIVE: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments. METHODS: We analyzed retrospectively the...
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