Last Posted: Nov 26, 2018
- Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes
HT Nguyen et al, VIOXRIV preprints, November 24, 2018
- Epilepsy control with carbamazepine monotherapy from a genetic perspective.
Ullah Shakir et al. BMC pharmacology & toxicology 2018 Nov 19(1) 73
- Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada.
Jain Puneet et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018 Nov 1-7
- Reanalyzing gene tests prompts new diagnoses in kids-Epilepsy study calls for 2-year checks to keep pace with scientific advances
UT SouthWestern, November 5, 2018
- Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
SoRelle Jeffrey A et al. JAMA pediatrics 2018 Nov e182302
- Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
Niestroj Lisa-Marie et al. Epilepsia 2018 Oct
- A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability.
Ouyang Lijing et al. Research in developmental disabilities 2014 Jul 35(7) 1518-27
- Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism.
Kantamneni Trishna et al. Pediatric clinics of North America 2018 65(2) 301-315
- The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig Ingo et al. Human mutation 2018 Nov (11) 1476-1484
- Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Bodian Dale L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct