Ring 14 chromosome
Evidence-based neurology checklist on ring 14 chromosome: Genetics The mutations alter the conformation of the chromosome from linear to circular Defining features Dysmorphic features Ocular features Systemic features General neurological features Epilepsy features Focal seizure types Other…
Genetics
- The mutations alter the conformation of the chromosome from linear to circular
Defining features
Dysmorphic features
Ocular features
Systemic features
General neurological features
Epilepsy features
Focal seizure types
Other seizure types
Electroencephalogram (EEG): features
Genetic tests
Other assessments
Anti-epileptic drugs (AEDs)
Other managements
References
- Kamnasaran D, Cox DW. Current status of human chromosome 14. J Med Genet 2002; 39:81-90.
- Rinaldi B, Vaisfeld A, Amarri S, et al. Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force. Orphanet J Rare Dis 2017; 12:69.
- Giovannini S, Marangio L, Fusco C, et al. Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients. Epilepsia 2013; 54:2204-2213.
- Vaisfeld A, Spartano S, Gobbi G, Vezzani A, Neri G. Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma. Epilepsia 2021; 62:25-40.
- Specchio N, Trivisano M, Serino D, et al. Epilepsy in ring 14 chromosome syndrome. Epilepsy Behav 2012; 25:585-592.
Related checklists
- Epilepsy and chromosomal disorders: classification
- Angelman syndrome
- Alfi syndrome
- Miller Dieker syndrome
- Patau syndrome
- Williams Beuren syndrome (WBS)
- Wolf-Hirschhorn syndrome
- 1p36 monosomy
- 1q deletion syndrome
- 2p deletion syndrome
- 2q deletion syndrome
- 3p deletion syndrome
- 6q terminal deletion syndrome
- 15 inversion duplication syndrome
- 15q13.3 microdeletion syndrome
- 18q deletion syndrome
- Fragile X syndrome
- Ring 20 chromosome
- Trisomy 12p
