Expanding the Phenotype of PIGS‐associated Early Onset Epileptic Developmental Encephalopathy

Stephanie Efthymiou,Marina Dutra-Clarke,Reza Maroofian,Rauan Kaiyrzhanov,Marcello Scala, Javeria Reza Alvi,Tipu Sultan,Marilena Christoforou,Thi Tuyet Mai Nguyen,Kshitij Mankad,Barbara Vona,Aboulfazl Rad,Pasquale Striano,Vincenzo Salpietro,Maria J. Guillen Sacoto,Maha S. Zaki,Joseph G. Gleeson,Philippe M. Campeau,Bianca E. Russell,Henry Houlden

Epilepsia（2021）

Cited 12|Views64

Key words

congenital disorders of glycosylation,epilepsy,epileptic encephalopathy,exome sequencing,inherited GPI deficiency,neurodevelopmental disorders,phosphatidylinositol glycan class S,PIGS

AI Read Science

Must-Reading Tree

Example

Generate MRT to find the research sequence of this paper

Chat Paper

Summary is being generated by the instructions you defined