| Literature DB >> 30698561 |
N A Semenova1, O R Ryzhkova1, T V Strokova2, N N Taran2.
Abstract
Germline mutations in CACNA1D cause the primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome (OMIM# 615474) characterized by primary aldosteronism, seizures and neurological abnormalities. The authors present a case-report of a 1-year 3-month male patient with neurological symptoms such as seizures and global developmental delay with primary hyperaldosteronism. The heterozygosis disease-causing variant c.776T>A in CACNA1D gene was identified.Entities:
Keywords: CACNA1D gene; and neurologic abnormalities syndrome; primary aldosteronism; seizures
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Year: 2018 PMID: 30698561 DOI: 10.17116/jnevro201811812149
Source DB: PubMed Journal: Zh Nevrol Psikhiatr Im S S Korsakova ISSN: 1997-7298