The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene
Author:
Publisher
Media Sphere Publishing Group
Subject
Psychiatry and Mental health,Neurology (clinical)
Reference17 articles.
1. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
2. Overview of the genetic determinants of primary aldosteronism
3. GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism
4. Fast and accurate long-read alignment with Burrows–Wheeler transform
5. A framework for variation discovery and genotyping using next-generation DNA sequencing data
Cited by 16 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Secondary Hypertension: Primary Hyperaldosteronism and Mineralocorticoid Excess States;Hypertension;2024
2. Voltage‐gated calcium channels in genetic epilepsies;Journal of Neurochemistry;2023-10-11
3. Treating Primary Aldosteronism-Induced Hypertension: Novel Approaches and Future Outlooks;Endocrine Reviews;2023-08-09
4. Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review;Frontiers in Neurology;2023-04-14
5. CACNA1D-Related Channelopathies: From Hypertension to Autism;Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease;2023
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