Periodic breathing in patients with <i>NALCN</i> mutations

1.Koroglu C, Seven M, Tolun A. Recessive truncating NALCN mutation in childish neuroaxonal dystrophy with facial dysmorphism. J Med Genet. 2013;50:515–20.2.Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, et al. Mutations in NALCN trigger an autosomal-recessive syndrome with extreme hypotonia, speech impairment, and cognitive delay. Am J Hum Genet. 2013;93:721–6.three.Gal M, Magen D, Zahran Y, Ravid S, Eran A, Khayat M, et al. A novel homozygous splice web site mutation in NALCN recognized in siblings with cachexia, strabismus, extreme mental incapacity, epilepsy and irregular respiratory rhythm. Eur J Med Genet. 2016;59:204–9.four.Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki Ok, Mizuno S. Biallelic mutations in NALCN: increasing the genotypic and phenotypic spectra of IHPRF1. Am J Med Genet A. 2018;176:431–7.5.Seven M, Ozkilic A, Yuksel A. Dysmorphic face in two siblings with childish neuroaxonal dystrophy. Genet Couns. 2002;13:465–73.6.Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Strains M, et al. Complete-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet. 2015;134:981–91.7.Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan Ok, Geraghty MT, et al. Concordance between whole-exome sequencing and scientific Sanger sequencing: implications for affected person care. Mol Genet Genomic Med. 2016;four:504–12.eight.Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, et al. FORGE Canada consortium: outcomes of a 2-year nationwide rare-disease gene-discovery undertaking. Am J Hum Genet. 2014;94:809–17.9.Lu B, Su Y, Das S, Liu J, Xia J, Ren D. The neuronal channel NALCN contributes resting sodium permeability and is required for regular respiratory rhythm. Cell. 2007;129:371–83.10.Cochet-Bissuel M, Lory P, Monteil A. The sodium leak channel, NALCN, in well being and illness. Entrance Cell Neurosci. 2014;eight:1–17.11.Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, et al. NALCN channelopathies: distinguishing gain-of-function and loss-of-function mutations. Neurology. 2016;zero:1131–9.12.Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, et al. De novo mutations in NALCN trigger a syndrome characterised by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015;96:462–73.13.Aoyagi Ok, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, et al. A gain-of-function mutation in NALCN in a toddler with mental incapacity, ataxia, and arthrogryposis. Hum Mutat. 2015;36:753–7.14.Lu B, Zhang Q, Wang H, Wang Y, Nakayama M, Ren D. Extracellular calcium controls background present and neuronal excitability by way of an UNC79-UNC80-NALCN cation channel advanced. Neuron. 2010;68:488–99.15.Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. Mutations in UNC80, encoding a part of the UNC79-UNC80-NALCN channel advanced, trigger autosomal-recessive extreme childish encephalopathy. Am J Hum Genet. 2016;98:210–5.16.Stray-Pedersen A, Cobben J-M, Prescott TE, Lee S, Cang C, Aranda Ok, et al. Biallelic mutations in UNC80 trigger persistent hypotonia, encephalopathy, progress retardation, and extreme mental incapacity. Am J Hum Genet. 2016;98:202–9.

LEAVE A REPLY

Please enter your comment!
Please enter your name here