Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance
Ravi Kumar Nadella, Anirudh S. Chellappa, Anand G. Subramaniam, Ravi Prabhakar More, Srividya Shetty, Suriya Prakash, Nikhil Ratna, V.P. Vandana, Meera Purushottam, Jitender S. Saini, Biju Viswanath, Parayil Sankaran Bindu, Madhu Nagappa, Bhupesh Mehta, Sanjeev Jain, Ramakrishnan Kannan
The paper identifies two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome patients and shows their functional impact on Kir4.1 channel activity.
Human Genomics · Oct 22, 2019Peer-reviewedNeuroscience