Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

BACKGROUND: Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder. However, not all neurological, intellectual disability, and comorbid phenotypes in SeSAME syndrome can be mechanistically linked...

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Detalles Bibliográficos
Autores principales: Nadella, Ravi K., Chellappa, Anirudh, Subramaniam, Anand G., More, Ravi Prabhakar, Shetty, Srividya, Prakash, Suriya, Ratna, Nikhil, Vandana, V. P., Purushottam, Meera, Saini, Jitender, Viswanath, Biju, Bindu, P. S., Nagappa, Madhu, Mehta, Bhupesh, Jain, Sanjeev, Kannan, Ramakrishnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805350/
https://www.ncbi.nlm.nih.gov/pubmed/31640787
http://dx.doi.org/10.1186/s40246-019-0236-0

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