Snead, O. Carter

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Zuberi, S. M., Wirrell, E., Yozawitz, E., Wilmshurst, J. M., Specchio, N., Riney, K., Pressler, R., Auvin, S., Samia, P., Hirsch, E., et al. (2022) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 934

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 557

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Wirrell, E. C., Nabbout, R., Scheffer, I. E., Alsaadi, T., Bogacz, A., French, J. A., Hirsch, E., Jain, S., Kaneko, S., Riney, K., et al. (2022) · Epilepsia

Epilepsy research and treatmentDiet and metabolism studies

Cited by 296

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

Hogema, B. M., Gupta, M., Senephansiri, H., Burlingame, T. G., Taylor, M., Jakobs, C., Schutgens, R. B. H., Froestl, W., Snead, O. C., Diaz-Arrastia, R., et al. (2001) · Nature Genetics

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 157

Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency

Gupta, M., Polinsky, M., Senephansiri, H., Snead, O. C., Jansen, E. E. W., Jakobs, C., & Gibson, K. M. (2004) · Neurobiology of Disease

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 56

Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

Gibson, K. M., Schor, D. S. M., Gupta, M., Guerand, W. S., Senephansiri, H., Burlingame, T. G., Bartels, H., Hogema, B. M., Bottiglieri, T., Froestl, W., et al. (2002) · Journal of Neurochemistry

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 55

Murine succinate semialdehyde dehydrogenase deficiency

Gupta, M., Hogema, B. M., Grompe, M., Bottiglieri, T. G., Concas, A., Biggio, G., Sogliano, C., Rigamonti, A. E., Pearl, P. L., Snead, O. C., et al. (2003) · Annals of Neurology

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 50

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

Jansen, E. E., Struys, E., Jakobs, C., Hager, E., Snead, O. C., & Gibson, K. M. (2008) · BMC Developmental Biology

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 41

Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency

Donarum, E. A., Stephan, D. A., Larkin, K., Murphy, E. J., Gupta, M., Senephansiri, H., Switzer, R. C., Pearl, P. L., Snead, O. C., Jakobs, C., et al. (2006) · Journal of Inherited Metabolic Disease

Epilepsy research and treatmentMetabolism and Genetic Disorders

Cited by 27