Genomes and Genes
Nanda A Singh
Affiliation: University of Utah
- Nonsyndromic seizure disorders: epilepsy and the use of the internet to advance researchMark F Leppert
Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112 5330, USA
Annu Rev Genomics Hum Genet 4:437-57. 2003....
- Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganizationNanda A Singh
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
J Physiol 586:3405-23. 2008..The absence of seizure-induced pathology found in these epileptic mouse models parallels the benign neurodevelopmental cognitive profile exhibited by the majority of BFNC patients...
- A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndromeNanda A Singh
Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
PLoS Genet 5:e1000649. 2009..This study provides evidence for a role of SCN9A in human epilepsies, both as a cause of FS and as a partner with SCN1A mutations...
- Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsionsJames F Otto
Department of Pharmacology and Toxicology, University of Utah, Salt Lake City, Utah, USA
Epilepsia 50:1752-9. 2009..The purpose of this study was to examine the effects of orthologous BFNC-causing mutations on seizure thresholds and the acquisition of corneal kindling in mice with heterozygous expression of the mutations...
- KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrumNanda A Singh
Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA
Brain 126:2726-37. 2003..We report here the first dominant negative mutation in KCNQ2 that has a phenotype of neonatal seizures without permanent clinical CNS impairment...
- A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addictionRobert B Weiss
Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
PLoS Genet 4:e1000125. 2008..The identification of an age-dependent susceptibility haplotype reinforces the importance of preventing early exposure to tobacco through public health policies...