Andermann, Eva

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

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Somatic mutations in cerebral cortical malformations

Jamuar, S. S., Lam, A.-T. N., Kircher, M., D’Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., et al. (2014) · New England Journal of Medicine

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 392

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Dibbens, L. M., de Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Chintawar, S., Crompton, D. E., Hughes, J. N., Bellows, S. T., Klein, K. M., et al. (2013) · Nature Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 373

Rare copy number variants are an important cause of epileptic encephalopathies

Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 247

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Smith, R. S., Kenny, C. J., Ganesh, V., Jang, A., Borges-Monroy, R., Partlow, J. N., Hill, R. S., Shin, T., Chen, A. Y., Doan, R. N., et al. (2018) · Neuron

Ion channel regulation and functionEpilepsy research and treatment

Cited by 160

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 130

Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome

Kogan, C. S., Bertone, A., Cornish, K., Boutet, I., Der Kaloustian, V. M., Andermann, E., Faubert, J., & Chaudhuri, A. (2004) · Neurology

Genetics and Neurodevelopmental DisordersVisual perception and processing mechanisms

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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

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