Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P.
Rudolf G, et al.
Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29.
Eur J Hum Genet. 2016.
PMID: 27352968
Free PMC article.
In the present study, we performed whole-exome sequencing in a family with GGE consistent with the diagnosis of eyelid myoclonia with absences. ...(Arg66*)) in RORB, which encodes the beta retinoid-related orphan nuclear receptor (RORbeta), in four affected famil …
In the present study, we performed whole-exome sequencing in a family with GGE consistent with the diagnosis of eyelid myoclonia with …