Horovitz Dafne Dain Gandelman, de Faria Domingues de Lima Maria Angelica, Pires Lais de Carvalho, Campos Araujo Abelardo de Queiroz, Vargas Fernando Regla
Medical Genetics Department, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil.
Medical Genetics, Gaffrée and Guinle University Hospital, Rio de Janeiro, Brazil.
J Cent Nerv Syst Dis. 2023 Jun 13;15:11795735231181467. doi: 10.1177/11795735231181467. eCollection 2023.
gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.
基因变异最近被发现与儿童发育障碍和癫痫以及成人运动障碍有关。到目前为止，仅有少数病例被报道；在此，我们展示通过外显子组测序鉴定出的4例新病例，这些病例来自于对发育迟缓、成人起病的小脑性共济失调或退行性变的调查。
