Lynette G. Sadleir
Epilepsy Study Consortium(US)University of Otago(NZ)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Pharmacological Effects and Toxicity Studies
Most-Cited Works
- → Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1(2013)686 cited
- → The spectrum of SCN1A-related infantile epileptic encephalopathies(2007)527 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → GRIN2A mutations cause epilepsy-aphasia spectrum disorders(2013)372 cited
- → Mortality in Dravet syndrome(2016)304 cited
- → Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy(2015)276 cited
- → PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome