ACTUALIZACIÓN MÉDICO-CONTINUADA EN EPILEPSIA ► Genomics|Features|Epilepsy [idioma inglés únicamente]

Genomics|Features|Epilepsy

Epilepsy

Epilepsy: Public Health and Genomic Insights - September 16, 2015

CDC Info

• Epilepsy
• Managing epilepsy
• Epilepsy: Frequently asked questions
• Epilepsy often comes with other health issues

Obtaining genetic testing in pediatric epilepsy
Ream MA, et al.Epilepsia, September 2015

Genetic testing for pediatric epilepsy can be complicated, but beneficial, Medical Xpress, September 9, 2015

Genetic discoveries drive molecular analyses and targeted therapeutic options in the epilepsies.
Dhindsa RS et al. Curr Neurol Neurosci Rep 2015 Oct (10) 587

Advancing epilepsy genetics in the genomic era
Myers CT et al. Genome Medicine, August 2015

CDC information: Managing epilepsy

CHD2 variants are a risk factor for photosensitivity in epilepsy.
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.
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.
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.
Syrbe S et al. Nat. Genet. 2015 Mar 9.

Pathway-driven discovery of epilepsy genes.
Noebels J et al. Nat. Neurosci. 2015 Mar (3) 344-350

Genetic screening and diagnosis in epilepsy?
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.
von Podewils F et al. Epilepsy Behav 2015 Jan 24. 61-66

National Epilepsy Awareness Month - November 13, 2014

CDC information: Epilepsy is a general term for conditions with recurring seizures. There are many kinds of seizures, but all involve abnormal electrical activity in the brain

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

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, et al. Nat Genet. 2014 Nov 2

New technologies in molecular genetics: the impact on epilepsy research.
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

What are genetic conditions and tests associated with epilepsy? Find out from the NIH Genetic Testing Registry