Eyelid myoclonia with absences, intellectual disability and attention deficit hyperactivity disorder: a clinical phenotype of the RORB gene mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-05031-y.pdf
Reference10 articles.
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2. Fisher RS, Cross H, D'Souza C, French JA, Haut S, Higurashi N et al (2019) 2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction. Epilepsia 60(6):1040–1044
3. Liu H, Aramaki M, Fu Y, Forrest D (2017)Retinoid-related orphan receptor β and transcriptional control of neuronal differentiation. Curr Top Dev Biol 125:227–255
4. Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M et al (2016) Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. Eur J Hum Genet 24(12):1761–1770
5. Sadleir LG, de Valles-Ibáñez G, King C, Coleman M, Mossman S, Paterson S, Nguyen J, Berkovic SF, Mullen S, Bahlo M, Hildebrand MS, Mefford HC, Scheffer IE (2020) Inherited RORB pathogenic variants: overlap of photosensitive genetic generalized and occipital lobe epilepsy. Epilepsia 61(4):e23–e29
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