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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurol Genet
Prif Awduron: Vetro, Annalisa, Pisano, Tiziana, Chiaro, Silvia, Procopio, Elena, Guerra, Azzurra, Parrini, Elena, Mei, Davide, Virdò, Simona, Mangone, Giusi, Azzari, Chiara, Guerrini, Renzo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer 2020
Pynciau:
Article
Mynediad Ar-lein: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
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