McMahon, Jacinta M.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., et al. (2013) · Nature Genetics

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 687

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

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

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

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Catarino, C. B., Liu, J. Y. W., Liagkouras, I., Gibbons, V. S., Labrum, R. W., Ellis, R., Woodward, C., Davis, M. B., Smith, S. J., Cross, J. H., et al. (2011) · Brain

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 227

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., et al. (2015) · The American Journal of Human Genetics

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 227

Progressive Gait Deterioration in Adolescents With Dravet Syndrome

Rodda, J. M., Scheffer, I. E., McMahon, J. M., Berkovic, S. F., & Graham, H. K. (2012) · Archives of Neurology

Cerebral Palsy and Movement DisordersEpilepsy research and treatment

Cited by 121

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

Sleep problems in Dravet syndrome: a modifiable comorbidity

Licheni, S. H., Mcmahon, J. M., Schneider, A. L., Davey, M. J., & Scheffer, I. E. (2018) · Developmental Medicine & Child Neurology

Sleep and related disordersEpilepsy research and treatment

Cited by 85

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

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