Sara Kivity
Hebrew University of Jerusalem(IL)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Pharmacological Effects and Toxicity Studies, Metabolism and Genetic Disorders
Most-Cited Works
- → Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1(2013)686 cited
- → X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment(2008)444 cited
- → Mutations in DEPDC5 cause familial focal epilepsy with variable foci(2013)359 cited
- → Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1(2008)340 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(2012)258 cited
- → A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome(2008)241 cited
- → Long‐term Cognitive Outcomes of a Cohort of Children with Cryptogenic Infantile Spasms Treated with High‐dose Adrenocorticotropic Hormone(2004)209 cited
- → Epilepsy and mental retardation limited to females: an under-recognized disorder(2008)193 cited