The Third Case Report a Patient With Primary Aldosteronism, Seizures, and Neurologic Abnormalities (PASNA) Syndrome De Novo Variant Mutations in the CACNA1D Gene


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.

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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