NeuroscienceHuman GenomicsPeer-reviewed
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…·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.
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