250 related articles for article (PubMed ID: 31409833)
1. 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
Sci Rep; 2019 Aug; 9(1):11791. PubMed ID: 31409833
[TBL] [Abstract][Full Text] [Related]
2. Novel NALCN variant linked to temporal lobe epilepsy.
Nguyen E; Tétreault M; Toffa DH; Cossette P; Samarut É; Nguyen DK
Am J Med Genet A; 2023 Jul; 191(7):1942-1947. PubMed ID: 37046053
[TBL] [Abstract][Full Text] [Related]
3. 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
Hum Genet; 2018 Sep; 137(9):753-768. PubMed ID: 30167850
[TBL] [Abstract][Full Text] [Related]
4. Case Report: A
Liao Z; Liu Y; Wang Y; Lu Q; Peng Y; Liu Q
Front Pediatr; 2022; 10():927392. PubMed ID: 35911839
[TBL] [Abstract][Full Text] [Related]
5. 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
Int J Environ Res Public Health; 2022 Jan; 19(2):. PubMed ID: 35055596
[No Abstract] [Full Text] [Related]
6. 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
Am J Med Genet A; 2020 Aug; 182(8):1877-1880. PubMed ID: 32618095
[TBL] [Abstract][Full Text] [Related]
7. 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
Neurology; 2016 Sep; 87(11):1131-9. PubMed ID: 27558372
[TBL] [Abstract][Full Text] [Related]
8. 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; ; Bamshad MJ
Am J Hum Genet; 2015 Mar; 96(3):462-73. PubMed ID: 25683120
[TBL] [Abstract][Full Text] [Related]
9. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Stray-Pedersen A; Cobben JM; Prescott TE; Lee S; Cang C; Aranda K; Ahmed S; Alders M; Gerstner T; Aslaksen K; Tétreault M; Qin W; Hartley T; Jhangiani SN; Muzny DM; Tarailo-Graovac M; van Karnebeek CD; ; ; Lupski JR; Ren D; Yoon G
Am J Hum Genet; 2016 Jan; 98(1):202-9. PubMed ID: 26708751
[TBL] [Abstract][Full Text] [Related]
10. 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
Am J Hum Genet; 2013 Oct; 93(4):721-6. PubMed ID: 24075186
[TBL] [Abstract][Full Text] [Related]
11. 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
Exp Mol Med; 2019 Oct; 51(10):1-14. PubMed ID: 31601786
[TBL] [Abstract][Full Text] [Related]
12. 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
J Hum Genet; 2016 May; 61(5):451-5. PubMed ID: 26763878
[TBL] [Abstract][Full Text] [Related]
13. Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
Takenouchi T; Inaba M; Uehara T; Takahashi T; Kosaki K; Mizuno S
Am J Med Genet A; 2018 Feb; 176(2):431-437. PubMed ID: 29168298
[TBL] [Abstract][Full Text] [Related]
14. 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
Clin Genet; 2017 Jun; 91(6):929-931. PubMed ID: 28133733
[No Abstract] [Full Text] [Related]
15. 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
Clin Genet; 2018 Jun; 93(6):1245-1247. PubMed ID: 29399786
[TBL] [Abstract][Full Text] [Related]
16. 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
J Med Genet; 2016 Jun; 53(6):397-402. PubMed ID: 26545877
[TBL] [Abstract][Full Text] [Related]
17. 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
Nature; 2020 Nov; 587(7833):313-318. PubMed ID: 32698188
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
Obeid T; Hamzeh AR; Saif F; Nair P; Mohamed M; Al-Ali MT; Bastaki F
Metab Brain Dis; 2018 Jun; 33(3):869-873. PubMed ID: 29430593
[TBL] [Abstract][Full Text] [Related]
19. A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
Aoyagi K; Rossignol E; Hamdan FF; Mulcahy B; Xie L; Nagamatsu S; Rouleau GA; Zhen M; Michaud JL
Hum Mutat; 2015 Aug; 36(8):753-7. PubMed ID: 25864427
[TBL] [Abstract][Full Text] [Related]
20. Periodic breathing in patients with NALCN mutations.
Bourque DK; Dyment DA; MacLusky I; Kernohan KD; ; McMillan HJ
J Hum Genet; 2018 Oct; 63(10):1093-1096. PubMed ID: 29968795
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]