Cromosoma 20 en anillo. Un reto diagnóstico

Neurologia Argentina - Tập 14 - Trang 251-255 - 2022
Jorge García-Ezquiaga1, María Llanos Carrasco-Marina2, Aránzazu Díaz de Bustamante3, María Teresa Darnaude-Ortiz3
1Neuropediatra, Servicio de Neuropediatría, Hospital Universitario del Tajo, Aranjuez, Madrid, España
2Neuropediatra, Servicio de Neuropediatría, Hospital Universitario Severo Ochoa, Leganés, Madrid, España
3Genetista, Unidad de Genética, Hospital Universitario de Móstoles, Móstoles, Madrid, España

Tài liệu tham khảo

Yip, 2015, Autosomal ring chromosomes in human genetic disorders, Transl Pediatr, 4, 164 Atkins, 1972, A ring-20 chromosome, J Med Genet., 9, 377, 10.1136/jmg.9.3.377 Kalane, 2017, Ring chromosome 20 syndrome – A rare chromosomal cause of refractory epilepsy in children, International Journal of Epilepsy., 4, 87, 10.1016/j.ijep.2016.10.003 Inoue, 1997, Ring chromosome 20 and nonconvulsive status epilepticus: a new epileptic syndrome, Brain., 120, 839, 10.1093/brain/120.6.939 Unterberger, 2018, A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature, Eur J Med Genet. Vignoli, 2016, Epilepsy in ring chromosome 20 syndrome, Epilepsy Res., 128, 83, 10.1016/j.eplepsyres.2016.10.004 Bernard, 2008, Channelopathies: A review, Pediatr Neurol., 38, 73, 10.1016/j.pediatrneurol.2007.09.007 Orphanet. Base de datos en Internet sobre enfermedades raras y los medicamentos huérfanos. Disponible en: http://www.orpha.net.[Enero 2021]. Vega-Zelaya, 2014, Características electroclínicas de un paciente con síndrome del cromosoma 20 en anillo, Rev Neurol., 58, 450 Gago-Veiga, 2018, Specificity of electroclinical features in the diagnosis of ring chromosome 20, Epilepsy Behav., 80, 215, 10.1016/j.yebeh.2017.12.001 Zambrelli, 2013, Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern, Funct Neurol., 28, 47 Augustijn, 2001, Ring chromosome 20 epilepsy syndrome in children: electroclinical features, Neurology., 57, 1108, 10.1212/WNL.57.6.1108 Avanzini, 2014, Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20, Clin Neurophysiol., 125, 239, 10.1016/j.clinph.2013.07.009 Freire de Moura, 2016, Long-term EEG in patients with the ring chromosome 20 epilepsy syndrome, Epilepsia, 57, e94, 10.1111/epi.13352 Hirano, 2016, Refractory and severe status epilepticus in a patient with ring chromosome 20syndrome, Brain Dev., 38, 746, 10.1016/j.braindev.2016.02.013 Order, 2016, Significant improvements of EEG and clinical findings with oral lacosamide in a patient with ring chromosome 20, Clin EEG Neurosci., 47, 330, 10.1177/1550059415593428 Vignoli, 2009, Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children, Epilepsia, 50, 2420, 10.1111/j.1528-1167.2009.02176.x Nishiwaki, 2005, Mosaicism and phenotype in ring chromosome 20 syndrome, Acta Neurol Scand., 111, 205, 10.1111/j.1600-0404.2005.00298.x Ville, 2006, Early pattern of epilepsy in the ring chromosome 20 syndrome, Epilepsia, 47, 543, 10.1111/j.1528-1167.2006.00465.x