Last Posted: Jun 22, 2021
- Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou Dongfang et al. Brain : a journal of neurology 2021
- The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients.
Ngo Thi Tuyet Dieu et al. Epilepsy research 2021 172106593
- Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee Jiwon et al. Annals of clinical and laboratory science 2020 Sep 50(5) 625-637
- Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.
Juanes Matias et al. Epilepsy & behavior : E&B 2020 Jul 111107322
- Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee Jiwon et al. Molecular genetics & genomic medicine 2020 Jul e1376
- Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
Mei Davide et al. Epilepsia 2019 60 Suppl 3S2-S7
- From Genetic Testing to Precision Medicine in Epilepsy.
Striano Pasquale et al. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2020 Jan
- Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal C Anwar A et al. Journal of the American Heart Association 2020 Jan 9(1) e012264
- A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.
Gertler Tracy S et al. Seizure 2019 Dec 751-6
- One Scientist's Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.