Neuronal Ceroid Lipofuscinosis
What's New
Last Posted: May 05, 2022
- Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of CLN2 Batten disease.
Leal-Pardinas Fernanda et al. Epilepsia 2022 - Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet Anaïs F et al. International journal of molecular sciences 2022 23(8) - Management of CLN1 Disease: International Clinical Consensus.
Augustine Erika F et al. Pediatric neurology 2021 12038-51 - Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
Shematorova Elena K et al. International journal of molecular sciences 2020 Oct 21(21) - Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Amadori Elisabetta et al. Italian journal of pediatrics 2020 Jul 46(1) 92 - Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Costain Gregory et al. Neuroscience 2019 Sep - Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan Elif Acar et al. Brain & development 2019 Sep - Children with rare inherited condition to benefit from drug through managed access agreement
NICE, UK, September 11, 2019 - Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
Hewson Stacy et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018 45(1) 93-96 - Considerations in multi-gene panel testing in pediatric ophthalmology.
Turriff Amy E et al. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019 Feb
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About Rare Diseases PHGKB
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
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