Cargando…
CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report
BACKGROUND: Early infantile epileptic encephalopathy is a severe form of epilepsy that is genetically extremely heterogeneous and characterized by seizures or spasms at the beginning of infancy. Homozygous or compound heterozygous mutation in the CAD gene cause early infantile epileptic encephalopat...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915536/ https://www.ncbi.nlm.nih.gov/pubmed/35277149 http://dx.doi.org/10.1186/s12887-022-03195-4 |