PubMed for id: 779

Year	Number of Results
1987	1
1988	1
1992	1
1993	4
1994	4
1995	3
1996	1
1997	2
1998	2
2000	1
2002	4
2003	3
2004	2
2005	4
2007	3
2008	3
2009	7
2010	4
2011	10
2012	6
2013	4
2014	2
2015	4
2016	4
2017	6
2018	3
2019	2
2020	8
2021	8
2022	7
2023	4
2024	1

1

Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.

Seed E, Noon F, Milnes D, Roscioli T, Kristensen K, Ellwood D, DaSilva Costa F. Seed E, et al. Prenat Diagn. 2023 Dec;43(13):1678-1681. doi: 10.1002/pd.6471. Epub 2023 Dec 18. Prenat Diagn. 2023. PMID: 38111203

2

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.

Periviita V, Palmio J, Jokela M, Hartikainen P, Vihola A, Rauramaa T, Udd B. Periviita V, et al. Neurology. 2023 Oct 31;101(18):e1779-e1786. doi: 10.1212/WNL.0000000000207639. Epub 2023 Sep 7. Neurology. 2023. PMID: 37679049

3

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.

Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R. Marinella G, et al. Genes (Basel). 2023 Jun 28;14(7):1363. doi: 10.3390/genes14071363. Genes (Basel). 2023. PMID: 37510268 Free PMC article. Review.

4

Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.

Benítez-Alonso EO, López-Hernández JC, Galnares-Olalde JA, Alcalá RE, Vargas-Cañas ES. Benítez-Alonso EO, et al. Cureus. 2022 Apr 2;14(4):e23760. doi: 10.7759/cureus.23760. eCollection 2022 Apr. Cureus. 2022. PMID: 35509735 Free PMC article.

5

Malignant Hyperthermia: A Killer If Ignored.

Bin X, Wang B, Tang Z. Bin X, et al. J Perianesth Nurs. 2022 Aug;37(4):435-444. doi: 10.1016/j.jopan.2021.08.018. Epub 2022 Apr 10. J Perianesth Nurs. 2022. PMID: 35414440 Free article.

6

Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients.

Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Komasińska-Piotrowska P, Steinborn B. Winczewska-Wiktor A, et al. J Clin Med. 2022 Jan 25;11(3):606. doi: 10.3390/jcm11030606. J Clin Med. 2022. PMID: 35160058 Free PMC article.

7

Novel CACNA1S mutation in hypokalaemic periodic paralysis.

Luís T, Linhares MI, Silva SR, Rodrigues F. Luís T, et al. BMJ Case Rep. 2022 Jan 17;15(1):e245952. doi: 10.1136/bcr-2021-245952. BMJ Case Rep. 2022. PMID: 35039355 Free PMC article.

8

Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report.

López-Hernández JC, Galnares-Olalde JA, Benitez-Alonso E, Alcalá RE, Vargas-Cañas ES. López-Hernández JC, et al. Cureus. 2021 Oct 18;13(10):e18873. doi: 10.7759/cureus.18873. eCollection 2021 Oct. Cureus. 2021. PMID: 34804722 Free PMC article.

9

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family.

Jin JY, Guo BB, Dong Y, Sheng Y, Fan LL, Zhang LB. Jin JY, et al. Front Genet. 2021 Oct 29;12:743184. doi: 10.3389/fgene.2021.743184. eCollection 2021. Front Genet. 2021. PMID: 34777470 Free PMC article.

10

CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.

Mauri E, Piga D, Pagliarani S, Magri F, Manini A, Sciacco M, Ripolone M, Napoli L, Borellini L, Cinnante C, Cassandrini D, Corti S, Bresolin N, Comi GP, Govoni A. Mauri E, et al. J Neurol Sci. 2021 Dec 15;431:120047. doi: 10.1016/j.jns.2021.120047. Epub 2021 Nov 3. J Neurol Sci. 2021. PMID: 34763287 No abstract available.

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