Iliescu, Catrinel M.

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

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Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

Craiu, D., Dragostin, O., Dica, A., Hoffman-Zacharska, D., Gos, M., Bastian, A. E., Gherghiceanu, M., Rolfs, A., Nahavandi, N., Craiu, M., et al. (2015) · European Journal of Paediatric Neurology

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 31