Mandelstam, Simone

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Weckhuysen, S., Mandelstam, S., Suls, A., Audenaert, D., Deconinck, T., Claes, L. R. F., Deprez, L., Smets, K., Hristova, D., Yordanova, I., et al. (2012) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 514

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

Howell, K. B., McMahon, J. M., Carvill, G. L., Tambunan, D., Mackay, M. T., Rodriguez-Casero, V., Webster, R., Clark, D., Freeman, J. L., Calvert, S., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 255

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

Howell, K. B., Eggers, S., Dalziel, K., Riseley, J., Mandelstam, S., Myers, C. T., McMahon, J. M., Schneider, A., Carvill, G. L., Mefford, H. C., et al. (2018) · Epilepsia

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 114

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M.-L., Anderson, V., Bitoun, P., et al. (2017) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 101

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

Epileptic spasms are a feature of DEPDC5 mTORopathy

Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., et al. (2015) · Neurology Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 76

The severe epilepsy syndromes of infancy: A population‐based study

Howell, K. B., Freeman, J. L., Mackay, M. T., Fahey, M. C., Archer, J., Berkovic, S. F., Chan, E., Dabscheck, G., Eggers, S., Hayman, M., et al. (2021) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 72

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases

Myers, K. A., McMahon, J. M., Mandelstam, S. A., Mackay, M. T., Kalnins, R. M., Leventer, R. J., & Scheffer, I. E. (2017) · Pediatrics

Epilepsy research and treatmentInfectious Encephalopathies and Encephalitis

Cited by 34

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Oliver, K. L., Trivisano, M., Mandelstam, S. A., De Dominicis, A., Francis, D. I., Green, T. E., Muir, A. M., Chowdhary, A., Hertzberg, C., Goldhahn, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23