| New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN. | New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN.
Monteil A, Guérineau NC, Gil-Nagel A, Parra-Diaz P, Lory P, Senatore A. | 12/15/2023 |
| Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection. | 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. | 11/16/2023 |
| Structural architecture of the human NALCN channelosome. | Structural architecture of the human NALCN channelosome.
Kschonsak M, Chua HC, Weidling C, Chakouri N, Noland CL, Schott K, Chang T, Tam C, Patel N, Arthur CP, Leitner A, Ben-Johny M, Ciferri C, Pless SA, Payandeh J. | 05/7/2022 |
| A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly. | 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. | 06/5/2021 |
| Structure of the human sodium leak channel NALCN. | Structure of the human sodium leak channel NALCN.
Kschonsak M, Chua HC, Noland CL, Weidling C, Clairfeuille T, Bahlke OØ, Ameen AO, Li ZR, Arthur CP, Ciferri C, Pless SA, Payandeh J. | 02/13/2021 |
| Structure of the human sodium leak channel NALCN in complex with FAM155A. | Structure of the human sodium leak channel NALCN in complex with FAM155A.
Xie J, Ke M, Xu L, Lin S, Huang J, Zhang J, Yang F, Wu J, Yan Z., Free PMC Article | 12/19/2020 |
| Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. | 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., Free PMC Article | 10/24/2020 |
| Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. | Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
Wie J, Bharthur A, Wolfgang M, Narayanan V, Ramsey K, C4RCD Research Group, Aranda K, Zhang Q, Zhou Y, Ren D., Free PMC Article | 08/29/2020 |
| PRMT7-mediated NALCN inhibition provides a potential target for the development of therapeutic tools for neurological diseases | Methylation determines the extracellular calcium sensitivity of the leak channel NALCN in hippocampal dentate granule cells.
Lee SY, Vuong TA, Wen X, Jeong HJ, So HK, Kwon I, Kang JS, Cho H., Free PMC Article | 06/13/2020 |
| these are the first European cases with Infantile hypotonia with psychomotor retardation and characteristic facies-1 syndrome with biallelic truncating mutations of NALCN. | 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. | 12/7/2019 |
| 4 patients with intellectual disability, small cerebellum, and contractures with novel, de novo predicted deleterious missense variants in NALCN are reported. | Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK. | 04/20/2019 |
| 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. | Periodic breathing in patients with NALCN mutations.
Bourque DK, Dyment DA, MacLusky I, Kernohan KD, Care4Rare Canada Consortium, McMillan HJ. | 12/22/2018 |
| NALCN variant is associated with neurodevelopmental diseases. | Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D., Free PMC Article | 09/29/2018 |
| UNC80 bridges between UNC79 and the cation channel NALCN. | UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. | 11/4/2017 |
| Study identified a de novo missense mutation in NALCN, c.1768C>T, in an infant with a severe neonatal lethal form of the recently characterized congenital contractures of the limbs and face with hypotonia and developmental delay. Clinical phenotype and electrophysiologic studies show sustained muscular contraction in response to transient sensory stimuli. | NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ., Free PMC Article | 06/10/2017 |
| The present data support previous work suggesting heterozygous NALCN mutations lead to syndromic neurodevelopmental impairment. | De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N. | 04/8/2017 |
| Two patients with novel mutations (p.F317C and p.V595F) and distal arthrogryposis and central hypertonicity are described. | Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
Karakaya M, Heller R, Kunde V, Zimmer KP, Chao CM, Nürnberg P, Cirak S. | 02/25/2017 |
| Our patients broaden the clinical spectrum associated with recessive mutations in NALCN, featuring also disrupted respiratory rhythm mimicking homozygous Nalcn knockout mice. | A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
Gal M, Magen D, Zahran Y, Ravid S, Eran A, Khayat M, Gafni C, Levanon EY, Mandel H. | 12/17/2016 |
| Ohmic leak currents were identified in freshly isolated and cultured myometrial smooth muscle cells. NALCN contributes to this current. Uterine biopsies from term, non-laboring women revealed NALCN messenger RNA and protein expression in the myometrium. | Sodium leak channel, non-selective contributes to the leak current in human myometrial smooth muscle cells from pregnant women.
Reinl EL, Cabeza R, Gregory IA, Cahill AG, England SK., Free PMC Article | 07/30/2016 |
| UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex | Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS., Free PMC Article | 05/14/2016 |
| We used exome and targeted next-generation sequencing to identify de novo mutations in NALCN as the cause of a newly delineated condition, CLIFAHDD syndrome. | De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ., Free PMC Article | 05/16/2015 |
| This study found a plausible association, though not statistically confirmed, of cervical dystonia with SNPs in the NALCN region. | Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP., Free PMC Article | 11/8/2014 |
| NALCN is the gene responsible for INAD with facial dysmorphism | Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
Köroğlu Ç, Seven M, Tolun A. | 02/22/2014 |
| Two mutations, one missense and one nonsense, in NALCN in two unrelated families. | Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N., Free PMC Article | 02/22/2014 |
| This study observed nominal association with rs9518320 and rs9518331, suggesting that NALCN is not related to schizophrenia risk. | Lack of association of NALCN genetic variants with schizophrenia.
Souza RP, Rosa DV, Romano-Silva MA, Zhen M, Meltzer HY, Lieberman JA, Remington G, Kennedy JL, Wong AH. | 04/9/2011 |