Gardos channelopathy: functional analysis of a novel KCNN4 variant

We show that the novel KCNN4 variant p.S314P is a gain-of-function mutation but is less severe than the previously reported p.R352H variant. The clinical heterogeneity, blurred symptoms, and absence of specific diagnostic markers make the diagnosis of Gardos channelopathy challenging.

Guardat en:
Dades bibliogràfiques
Publicat a:Blood Adv
Autors principals: Fermo, Elisa, Monedero-Alonso, David, Petkova-Kirova, Polina, Makhro, Asya, Pérès, Laurent, Bouyer, Guillaume, Marcello, Anna Paola, Longo, Filomena, Graziadei, Giovanna, Barcellini, Wilma, Bogdanova, Anna, Egee, Stephane, Kaestner, Lars, Bianchi, Paola
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2020
Matèries:
Exceptional Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756992/
https://ncbi.nlm.nih.gov/pubmed/33351129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020003285
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