Article
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Human genomics - 22 Oct 2019
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
Abstract excerpt
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 solely to Kir4.1 dysfunction. METHODS: We therefore performed whole-exome sequencing and identified additional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.