De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures

Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749). Methods: The...

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Detalles Bibliográficos
Autores principales: Kochetkova, Taisiya O., Maslennikov, Dmitry N., Tolmacheva, Ekaterina R., Shubina, Jekaterina, Bolshakova, Anna S., Suvorova, Dzhenneta I., Degtyareva, Anna V., Orlovskaya, Irina V., Kuznetsova, Maria V., Rachkova, Anastasia A., Sukhikh, Gennady T., Rebrikov, Denis V., Trofimov, Dmitriy Yu.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956824/
https://www.ncbi.nlm.nih.gov/pubmed/36833293
http://dx.doi.org/10.3390/genes14020366

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