Benign Familial Infantile Epilepsy
What's New
Last Posted: Aug 15, 2023
- The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.
Jennifer G Andrews et al. J Registry Manag 2023 50(1) 4-10 - KCNQ2 - Related Epilepsy: geno - phenotype relationship with tailorized anti seizures medication (ASM): Systematic review.
Raffaele Falsaperla et al. Neuropediatrics 2023 - 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 0 (9) e1376 - Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou Dongfang, et al. Brain : a journal of neurology 2021 0 (12) 3623-3634 - Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
Chen Yulan, et al. Frontiers of medicine 2021 0 (6) 877-886 - Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Zeng Qi, et al. Journal of human genetics 2017 11 - Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Heron Sarah E, et al. Epilepsia 2013 5 (5) e86-9 - Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Ishii A, et al. Brain & development 2012 10 - PRRT2 mutations cause hemiplegic migraine.
Riant F, et al. Neurology 2012 10 - Benign familial infantile epilepsy
From NCATS Genetic and Rare Diseases Information Center
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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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