West Syndrome
What's New
Last Posted: Mar 15, 2023
- Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing.
Duc Nguyen Minh, et al. Epilepsy research 2023 0 107094 - Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
Juanes Matías, et al. Medicina 2022 0 (6) 856-865 - Novel and de novo mutations in pediatric refractory epilepsy.
Liu Jing, et al. Molecular brain 2018 0 (1) 48 - De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.
Li T, et al. Genes, brain, and behavior 2018 0 (8) e12492 - Novel West syndrome candidate genes in a Chinese cohort.
Peng Jing, et al. CNS neuroscience & therapeutics 2018 0 (12) 1196-1206 - The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Chatron Nicolas, et al. Annals of neurology 2018 0 (5) 926-934 - CHD2-related epilepsy: novel mutations and new phenotypes.
Chen Jiaoyang, et al. Developmental medicine and child neurology 2019 0 (5) 647-653 - De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Kunii Misako, et al. Journal of the neurological sciences 2020 0 117047 - Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Rademacher Annika, et al. Neuropediatrics 2020 0 (5) 368-372 - GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Yang Ying, et al. Journal of neurology 2021 0 (5) 2649-2665
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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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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