Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

BACKGROUND: We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis. CASE PRESENTATION: Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant...

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Detalles Bibliográficos
Autores principales: Den, Kouhei, Kudo, Yosuke, Kato, Mitsuhiro, Watanabe, Kosuke, Doi, Hiroshi, Tanaka, Fumiaki, Oguni, Hirokazu, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Mitsuhashi, Satomi, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815447/
https://www.ncbi.nlm.nih.gov/pubmed/31656175
http://dx.doi.org/10.1186/s12883-019-1489-x

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