Semenova N A, Ryzhkova O R, Strokova T V, Taran N N
Research Centre for Medical Genetics, Moscow, Russian Federation.
Federal Research Centre of Nutrition and Biotechnology.
Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(12):49-52. doi: 10.17116/jnevro201811812149.
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.
CACNA1D基因的种系突变导致原发性醛固酮增多症、癫痫和神经异常（PASNA）综合征（OMIM#615474），其特征为原发性醛固酮增多症、癫痫和神经异常。作者报告了一例1岁3个月男性患者的病例，该患者有癫痫发作和全面发育迟缓等神经症状，并伴有原发性醛固酮增多症。在CACNA1D基因中鉴定出杂合致病性变异c.776T>A。
