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.
Abstract/Summary:
Authors: N A Semenova, O R Ryzhkova, T V Strokova, N N Taran
Keywords: neurologic abnormalities syndrome, seizure
DOI Number: 10.17116/jnevro201811812149 Publication Year: 2018
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