McTague, Amy

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stödberg, T., McTague, A., Ruiz, A. J., Hirata, H., Zhen, J., Long, P., Farabella, I., Meyer, E., Kawahara, A., Vassallo, G., et al. (2015) · Nature Communications

Epilepsy research and treatmentIon channel regulation and function

Cited by 184

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

McTague, A., Appleton, R., Avula, S., Cross, J. H., King, M. D., Jacques, T. S., Bhate, S., Cronin, A., Curran, A., Desurkar, A., et al. (2013) · Brain

Epilepsy research and treatmentFetal and Pediatric Neurological Disorders

Cited by 170

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

O'Callaghan, F. J. K., Edwards, S. W., Alber, F. D., Cortina Borja, M., Hancock, E., Johnson, A. L., Kennedy, C. R., Likeman, M., Lux, A. L., Mackay, M. T., et al. (2018) · The Lancet Child & Adolescent Health

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 167

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brunklaus, A., Brünger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M.-A., Symonds, J., Andrew, J., Arzimanoglou, A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 167

Developmental and epileptic encephalopathies

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 158

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

D'Gama, A. M., Mulhern, S., Sheidley, B. R., Boodhoo, F., Buts, S., Chandler, N. J., Cobb, J., Curtis, M., Higginbotham, E. J., Holland, J., et al. (2023) · The Lancet Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 80

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

Papandreou, A., McTague, A., Trump, N., Ambegaonkar, G., Ngoh, A., Meyer, E., Scott, R. H., & Kurian, M. A. (2016) · Developmental Medicine & Child Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 79

Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies

McTague, A., Rossignoli, G., Ferrini, A., Barral, S., & Kurian, M. A. (2021) · Frontiers in Genome Editing

CRISPR and Genetic EngineeringPluripotent Stem Cells Research

Cited by 67

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., et al. (2023) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 24