PubMed for id: 815784

Year	Number of Results
2015	1
2016	1
2017	1
2018	7
2019	2
2020	2
2021	1
2022	4
2023	3

1

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.

Karimi AH, Karimi MR, Farnia P, Parvini F, Foroutan M. Karimi AH, et al. Appl Clin Genet. 2020 Aug 27;13:151-157. doi: 10.2147/TACG.S261781. eCollection 2020. Appl Clin Genet. 2020. PMID: 32943903 Free PMC article.

2

Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.

Bouasse M, Impheng H, Servant Z, Lory P, Monteil A. Bouasse M, et al. Sci Rep. 2019 Aug 13;9(1):11791. doi: 10.1038/s41598-019-48071-x. Sci Rep. 2019. PMID: 31409833 Free PMC article.

3

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.

Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L. Angius A, et al. Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29399786

4

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki K, Mizuno S. Takenouchi T, et al. Am J Med Genet A. 2018 Feb;176(2):431-437. doi: 10.1002/ajmg.a.38543. Epub 2017 Nov 23. Am J Med Genet A. 2018. PMID: 29168298

5

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.

Tehrani Fateh S, Bagheri S, Sadeghi H, Salehpour S, Fazeli Bavandpour F, Sadeghi B, Jamshidi S, Tonekaboni SH, Mirfakhraie R, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Neurol Sci. 2023 Dec;44(12):4491-4498. doi: 10.1007/s10072-023-06960-0. Epub 2023 Jul 15. Neurol Sci. 2023. PMID: 37452996

6

Novel NALCN variant linked to temporal lobe epilepsy.

Nguyen E, Tétreault M, Toffa DH, Cossette P, Samarut É, Nguyen DK. Nguyen E, et al. Am J Med Genet A. 2023 Jul;191(7):1942-1947. doi: 10.1002/ajmg.a.63209. Epub 2023 Apr 12. Am J Med Genet A. 2023. PMID: 37046053

7

Severe central sleep apnea in a child with biallelic variants in NALCN.

Maselli K, Park H, Breilyn MS, Arens R. Maselli K, et al. J Clin Sleep Med. 2022 Oct 1;18(10):2507-2513. doi: 10.5664/jcsm.10146. J Clin Sleep Med. 2022. PMID: 35808948 Free PMC article. Review.

8

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Wojsyk-Banaszak I, Sobkowiak P, Bartkowska-Śniatkowska A, Babak V, Steinborn B. Winczewska-Wiktor A, et al. Int J Environ Res Public Health. 2022 Jan 11;19(2):775. doi: 10.3390/ijerph19020775. Int J Environ Res Public Health. 2022. PMID: 35055596 Free PMC article.

9

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.

Mishra S, Girisha KM, Shukla A. Mishra S, et al. Clin Dysmorphol. 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360. Clin Dysmorphol. 2021. PMID: 33229923 Free PMC article.

10

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.

Ope O, Bhoj EJ, Nelson B, Li D, Hakonarson H, Sobering AK. Ope O, et al. Am J Med Genet A. 2020 Aug;182(8):1877-1880. doi: 10.1002/ajmg.a.61744. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618095

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