Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME...
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance
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Author / Creator
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 and Kannan, Ramakrishnan
Publisher
England: BioMed Central Ltd
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English
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Publisher
England: BioMed Central Ltd
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Contents
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.
We therefore performed whole...
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Full title
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance
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TN_cdi_doaj_primary_oai_doaj_org_article_c94a5b6d2b014db5b2449bb89cf958d4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c94a5b6d2b014db5b2449bb89cf958d4
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ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-019-0236-0
