Craiu, Dana

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

Summary of recommendations for the management of infantile seizures: TaskForceReport for the ILAE C ommission ofPediatrics

Wilmshurst, J. M., Gaillard, W. D., Vinayan, K. P., Tsuchida, T. N., Plouin, P., Van Bogaert, P., Carrizosa, J., Elia, M., Craiu, D., Jovic, N. J., et al. (2015) · Epilepsia

Epilepsy research and treatmentCerebral Palsy and Movement Disorders

Cited by 418

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 285

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

Cited by 219

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., et al. (2019) · The Lancet Diabetes & Endocrinology

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 129

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Dejanovic, B., Djémié, T., Grünewald, N., Suls, A., Kress, V., Hetsch, F., Craiu, D., Zemel, M., Gormley, P., Lal, D., et al. (2015) · EMBO Molecular Medicine

Neuroscience and Neuropharmacology ResearchEpilepsy research and treatment

Cited by 49

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