A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern. Several loci on specific chromosomes have been studied by linkage analysis, but the causes of essential...

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Detalles Bibliográficos
Autores principales: d’Apolito, Maria, Ceccarini, Caterina, Savino, Rosa, Adipietro, Iolanda, di Bari, Ighli, Santacroce, Rosa, Curcetti, Maria, D’Andrea, Giovanna, Croce, Anna-Irma, Cesarano, Carla, Polito, Anna Nunzia, Margaglione, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379157/
https://www.ncbi.nlm.nih.gov/pubmed/37510285
http://dx.doi.org/10.3390/genes14071380

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379157/
https://www.ncbi.nlm.nih.gov/pubmed/37510285
http://dx.doi.org/10.3390/genes14071380

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