Literature DB >> 30698561

[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene].

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

Mesh:

Substances:

Year:  2018        PMID: 30698561     DOI: 10.17116/jnevro201811812149

Source DB:  PubMed          Journal:  Zh Nevrol Psikhiatr Im S S Korsakova        ISSN: 1997-7298


  7 in total

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Authors:  Xin He; Zubin Modi; Tobias Else
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Review 2.  Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Authors:  Lucas S Santana; Augusto G Guimaraes; Madson Q Almeida
Journal:  Front Endocrinol (Lausanne)       Date:  2022-06-23       Impact factor: 6.055

Review 3.  De novo CACNA1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism.

Authors:  Nadine J Ortner; Teresa Kaserer; J Nathan Copeland; Jörg Striessnig
Journal:  Pflugers Arch       Date:  2020-06-24       Impact factor: 3.657

4.  Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.

Authors:  Nadja T Hofer; Petronel Tuluc; Nadine J Ortner; Yuliia V Nikonishyna; Monica L Fernándes-Quintero; Klaus R Liedl; Bernhard E Flucher; Helen Cox; Jörg Striessnig
Journal:  Mol Autism       Date:  2020-01-08       Impact factor: 7.509

5.  A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.

Authors:  Tal T Sadeh; Graeme C Black; Forbes Manson
Journal:  Front Genet       Date:  2021-01-28       Impact factor: 4.599

Review 6.  Genetics of Primary Aldosteronism.

Authors:  Ute I Scholl
Journal:  Hypertension       Date:  2022-02-10       Impact factor: 10.190

7.  A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia.

Authors:  María Carmen De Mingo Alemany; Luis Mifsud Grau; Francisca Moreno Macián; Belén Ferrer Lorente; Sara León Cariñena
Journal:  Channels (Austin)       Date:  2020-12       Impact factor: 2.581

  7 in total

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