Article ; Online: Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
International journal of molecular sciences
2021 Volume 22, Issue 8
Abstract: ... into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE ... on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and ... with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal ...
| Abstract | Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000-2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. Neonatal seizure semiology, or MD age of onset, were not always available. The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase ( |
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| MeSH term(s) | Animals ; Epilepsies, Myoclonic ; Epilepsy/genetics ; Humans ; Infant, Newborn ; Movement Disorders/genetics ; Seizures/genetics ; Tumor Suppressor Proteins/genetics ; WW Domain-Containing Oxidoreductase/genetics |
| Chemical Substances | Tumor Suppressor Proteins ; WW Domain-Containing Oxidoreductase (EC 1.1.1.-) ; WWOX protein, human (EC 1.1.1.-) |
| Language | English |
| Publishing date | 2021-04-18 |
| Publishing country | Switzerland |
| Document type | Journal Article ; Systematic Review |
| ZDB-ID | 2019364-6 |
| ISSN | 1422-0067 ; 1422-0067 ; 1661-6596 |
| ISSN (online) | 1422-0067 |
| ISSN | 1422-0067 ; 1661-6596 |
| DOI | 10.3390/ijms22084202 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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