Epilepsy
Epilepsy: Public Health and Genomic Insights - August 25, 2015
Advancing epilepsy genetics in the genomic era ![Adobe PDF file Adobe PDF file](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_uXDrAdb5Njco6IlLOjQd6r9sqDdYeiui7aT_DLWM4JTHTHWTI3H4-EK_5O_Fg4uez0EgIb5u_JNT_qZyHbi6ruo3-lx5Lae-VktRHH3SkRFcUlI0OzcTZR=s0-d)
![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Myers CT et al. Genome Medicine, August 2015
Myers CT et al. Genome Medicine, August 2015
CDC information:Managing epilepsy
CHD2 variants are a risk factor for photosensitivity in epilepsy.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Galizia EC et al. Brain 2015 Mar 17.
Galizia EC et al. Brain 2015 Mar 17.
Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Naseer MI et al. BMC Genomics 2015;16 Suppl 1:S10.
Naseer MI et al. BMC Genomics 2015;16 Suppl 1:S10.
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Mercimek-Mahmutoglu S et al. Orphanet J Rare Dis 2015 Feb 8. (1) 12
Mercimek-Mahmutoglu S et al. Orphanet J Rare Dis 2015 Feb 8. (1) 12
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Syrbe S et al. Nat. Genet. 2015 Mar 9.
Syrbe S et al. Nat. Genet. 2015 Mar 9.
Pathway-driven discovery of epilepsy genes.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Noebels J et al. Nat. Neurosci. 2015 Mar (3) 344-350
Noebels J et al. Nat. Neurosci. 2015 Mar (3) 344-350
Genetic screening and diagnosis in epilepsy?![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Sisodiya SM et al. Curr. Opin. Neurol. 2015 Apr (2) 136-42
Sisodiya SM et al. Curr. Opin. Neurol. 2015 Apr (2) 136-42
Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
von Podewils F et al. Epilepsy Behav 2015 Jan 24. 61-66
von Podewils F et al. Epilepsy Behav 2015 Jan 24. 61-66
National Epilepsy Awareness Month - November 13, 2014
CDC information: Risk factors for epilepsy include family health history and certain genetic conditions
Scripps Researchers Identify New Genetic Cause of Epilepsy,
November 6, 2014
Scripps Researchers Identify New Genetic Cause of Epilepsy,
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Schubert J, et al. Nat Genet. 2014 Nov 2
Schubert J, et al. Nat Genet. 2014 Nov 2
New technologies in molecular genetics: the impact on epilepsy research.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
Helbig I. Prog Brain Res. 2014;213:253-78
Helbig I. Prog Brain Res. 2014;213:253-78
Epilepsy: Genes, Environments and Associated Conditions - December 5, 2013
CDC information: Epilepsy often comes with other health issues
CDC information on epilepsy basics: Causes of epilepsy include certain genetic disorders
Did you know? 302 genes have been reported in relation to risk and outcomes of epilepsy, including 10 genomewide association studies? To find out more, visit the HuGE Navigator![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
What are genetic conditions and tests associated with epilepsy? Find out from the NIH Genetic Testing Registry![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tRgY5mHXyiy5mibKTnIcOumQrXOQyiOlAEcU5asDMg44QgWfGUvuAv-7cMRpCL1S8gc9iNI86quNcGzOzPznGpKOF1J1lVq1hgdlWPTDS8oNVoYtLhYkFU=s0-d)
No hay comentarios:
Publicar un comentario