PMC Links for OMIM (Select 610271) - PMC

Result Filters

Links from OMIM

Items: 3

Select item 78985471.

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 Feb; 62(2): e35–e41. Published online 2021 Jan 7. doi: 10.1111/epi.16801

PMCID:: PMC7898547

Abstract Article PDF–945K

Select item 61742872.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M. Wigby, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie Jones, Alejandro D. Iglesias, Marilyn C. Jones, Diane Masser-Frye, Angela E. Scheuerle, Denise L. Perry, Ryan J. Taft, Françoise Le Deist, Miles Thompson, Taroh Kinoshita, Philippe M. Campeau

Am J Hum Genet. 2018 Oct 4; 103(4): 602–611. Published online 2018 Sep 27. doi: 10.1016/j.ajhg.2018.08.014