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Extended spectrum of Cav1.3 channelopathies

  • Published:2022-10-29 Issue:2 Volume:475 Page:147-149
  • ISSN:0031-6768
  • Container-title:Pflügers Archiv - European Journal of Physiology
  • language:en
  • Short-container-title:Pflugers Arch - Eur J Physiol

Author:

Mustafá Emilio R.ORCID,Weiss NorbertORCID

Funder

Grantová Agentura České Republiky

National Institute for Research of Metabolic and Cardiovascular Diseases - Programme EXCELES, funded by the European Union – Next Generation EU

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Clinical Biochemistry,Physiology

Reference10 articles.

1. Chan CS, Guzman JN, Ilijic E, Mercer JN, Rick C, Tkatch T, Meredith GE, Surmeier DJ (2007) ‘rejuvenation’ protects neurons in mouse models of parkinson’s disease. Nature 447(7148):1081–1086

2. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Task FFNG, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Deciphering DDS, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC (2018) De novo pathogenic variants in cacna1e cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. Am J Hum Genet 103(5):666–678

3. Ortner NJ, Kaserer T, Copeland JN, Striessnig J (2020) De novo cacna1d ca2+ channelopathies: Clinical phenotypes and molecular mechanism. Pflugers Arch 472(7):755–773

4. Shin J, Kovacheva L, Thomas D, Stojanovic S, Knowlton CJ, Mankel J, Boehm J, Farassat N, Paladini C, Striessnig J, Canavier CC, Geisslinger G, Roeper J (2022) Cav1.3 calcium channels are full-range linear amplifiers of firing frequencies in lateral da sn neurons. Sci Adv 8(23):eab4560

5. Striessnig J (2021) Voltage-gated ca2+-channel α1-subunit de novo missense mutations: Gain or loss of function - implications for potential therapies. Front Synaptic Neurosci 13:634760
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