Yüklüyor......
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
OBJECTIVE: To describe clinical, biochemical, and molecular genetic findings in a large inbred family in which 4 children with a severe early-onset epileptic-dyskinetic encephalopathy, with suppression burst EEG, harbored homozygous mutations of phosphatidylinositol glycan anchor biosynthesis, class...
Kaydedildi:
| Yayımlandı: | Neurol Genet |
|---|---|
| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wolters Kluwer
2020
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6984131/ https://ncbi.nlm.nih.gov/pubmed/32042915 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000387 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|