Bibliographic Details
| Title: |
Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype |
| Authors: |
Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir |
| Source: |
Epilepsia Open, Vol 7, Iss 1, Pp 170-180 (2022) |
| Publisher Information: |
Wiley, 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Neurology. Diseases of the nervous system |
| Subject Terms: |
developmental and epileptic encephalopathy, epilepsy, infantile, movement disorder, myoclonic, RARS2, Neurology. Diseases of the nervous system, RC346-429 |
| More Details: |
Abstract Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early‐infantile ( |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2470-9239 |
| Relation: |
https://doaj.org/toc/2470-9239 |
| DOI: |
10.1002/epi4.12553 |
| Access URL: |
https://doaj.org/article/7efeca282aac4086b400d32feaada124 |
| Accession Number: |
edsdoj.7efeca282aac4086b400d32feaada124 |
| Database: |
Directory of Open Access Journals |
