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Semenova N.A.

Altai State Medical University, Ministry of Health of Russia, Barnaul

Ryzhkova O.R.

Research Centre for Medical Genetics, Moscow, Russian Federation

Strokova T.V.

FGBUN «Federal'nyj issledovatel'skij tsentr pitanija, biotehnologii i bezopasnosti pischi», Moskva, Rossija

Taran N.N.

Federal Research Centre of Nutrition and Biotechnology

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

Authors:

Semenova N.A., Ryzhkova O.R., Strokova T.V., Taran N.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(12): 49‑52

DOI: 10.17116/jnevro201811812149

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THE THIRD CASE REPORT A PATIENT WITH PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (PASNA) SYNDROME DE NOVO VARIANT MUTATIONS IN THE CACNA1D GENE
THE THIRD CASE REPORT A PATIENT WITH PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (PASNA) SYNDROME DE NOVO VARIANT MUTATIONS IN THE CACNA1D GENE

To cite this article:

Semenova NA, Ryzhkova OR, Strokova TV, Taran NN. The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(12):49‑52. (In Russ.)
https://doi.org/10.17116/jnevro201811812149

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Recommended articles:
Epileptogenesis and risk factors of symptomatic epileptic seizures in patients with acute cere­brovascular acci­dents. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(8-2):26-31
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.

Keywords:

primary aldosteronism
seizures
and neurologic abnormalities syndrome
CACNA1D gene

Authors:

Semenova N.A.

Altai State Medical University, Ministry of Health of Russia, Barnaul

Ryzhkova O.R.

Research Centre for Medical Genetics, Moscow, Russian Federation

Strokova T.V.

FGBUN «Federal'nyj issledovatel'skij tsentr pitanija, biotehnologii i bezopasnosti pischi», Moskva, Rossija

Taran N.N.

Federal Research Centre of Nutrition and Biotechnology

Close metadata

References:

  1. Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nature Genetics. 2013;45(9):1050-1054. https://doi.org/10.1038/ng.2695
  2. Al-Salameh A, Cohen R, Desailloud R. Overview of the genetic determinants of primary aldosteronism. The Application of Clinical Genetics. 2014;7:67-79. https://doi.org/10.2147/tacg.s45620
  3. Monticone S, Buffolo F, Tetti M, Veglio F, Pasini B, Mulatero P. Genetics in endocrinology: The expanding genetic horizon of primary aldosteronism. Eur J Endocrinol. 2018;178(3):101-111. https://doi.org/10.1530/eje-17-0946
  4. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589-595. https://doi.org/10.1093/bioinformatics/btp698
  5. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491-498. https://doi.org/10.1038/ng.806
  6. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249. https://doi.org/10.1038/nmeth0410-248
  7. Schwarz F, Sager M, Ferrari D, Mihatovic I, Becker J. Letter to the Editor: Authors’ Response. J Periodontol. 2010;81(1):1-2. https://doi.org/10.1902/jop.2009.090512
  8. Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One. 2012;7(10):e46688. https://doi.org/10.1371/journal.pone.0046688
  9. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073-1081. https://doi.org/10.1038/nprot.2009.86
  10. Striessnig J, Pinggera A, Kaur G, Bock G, Tuluc P. L-type Ca2+ channels in heart and brain. Wiley Interdiscip Rev Membr Transp Signal. 2014;3(2):15-38. https://doi.org/10.1002/wmts.102
  11. Zamponi GW, Striessnig J, Koschak A, Dolphin AC. The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential. Pharmacol Rev. 2015;67(4):821-870. https://doi.org/10.1124/pr.114.009654
  12. Hirtz JJ, Braun N, Griesemer D, Hannes C, Janz K, Löhrke S, Müller B, Friauf E. Synaptic refinement of an inhibitory topographic map in the auditory brainstem requires functional Cav1.3 calcium channels. J Neurosci. 2012;32(42):14602-14616. https://doi.org/10.1523/jneurosci.0765-12.2012
  13. Kabir ZD, Martínez-Rivera A, Rajadhyaksha AM. From Gene to Behavior: L-Type Calcium Channel Mechanisms Underlying Neuropsychiatric Symptoms. Neurotherapeutics. 2017;14(3):588-613. https://doi.org/10.1007/s13311-017-0532-0
  14. Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J Neurosci. 2008;28(46):11768-11777. https://doi.org/10.1523/jneurosci.3901-08.2008
  15. Pinggera A, Striessnig J. Cav1.3 (CACNA1D) L‐type Ca2+ channel dysfunction in CNS disorders. The Journal of Physiology. 2016;594(20):5839-5849. https://doi.org/10.1113/jp270672
  16. Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J. New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. Hum Mol Genet. 2017;26(15):2923-2932. https://doi.org/10.1093/hmg/ddx175
  17. Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R & Noebels J. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 2011;145(7):1036-1048. https://doi.org/10.1016/j.cell.2011.05.025
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