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...

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Detalles Bibliográficos
Autores principales: Yarahmadi, Sepideh Gholami, Morovvati, Saeid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
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

Internet

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

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