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

Nadella, Ravi Kumar; Chellappa, Anirudh; Subramaniam, Anand G.; More, Ravi Prabhakar; Shetty, Srividya; Prakash, Suriya; Ratna, Nikhil; Vandana, V.P.; Purushottam, Meera; Saini, Jitender; Viswanath, Biju; Bindu, PS; Nagappa, Madhu; Mehta, Bhupesh; Jain, Sanjeev; Kannan, R.

doi:10.1101/506949

2018

DOI: 10.1101/506949

|View full text |Cite

Preprint

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

Ravi Kumar Nadella¹,

Anirudh Chellappa²,

Anand G. Subramaniam³

et al.

Abstract: Deficits in the inwardly rectifying K + channel, Kir4.

Help me understand this report

View published versions

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Publication Types

Select...

Relationship

Self Cite0

Independent0

Authors

Journals

Cited by 0 publications

References 90 publications

(87 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

No citations

Set email alert for when this publication receives citations?

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

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

Abstract: Deficits in the inwardly rectifying K + channel, Kir4.

Cited by 0 publications

References 90 publications

No citations

Contact Info

Product

Resources

About