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Paper Details

PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
3
2022
Abnormal development, DEE, Epilepsy, Hyperkinetic movement disorder, ID, ID+, ID+E, Leu311Trp, PIGN diseases, PIGN encephalopathy, PIGN variants, Patients, Seizure, autosomal recessive disorder, biallelic variants, developmental and epileptic encephalopathy, developmental impairment, epilepsy, focal epilepsy, focal impaired awareness, generalized seizures, intellectual disability, patients, seizures
Author NameAffiliation
Eleina EnglandCenter for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard
Carlos R FerreiraNational Human Genome Research Institute
Michael S HildebrandRoyal Children's Hospital, Florey institute and Murdoch Children's Research Institute
Michael S HildebrandEpilepsy Research Centre, University of Melbourne
Lynne A WolfeNational Human Genome Research Institute
Lynne A WolfeNational Human Genome Research Institute
Alexandre ReymondGiannina Gaslini Institute
Ingrid E SchefferRoyal Children's Hospital, Florey institute and Murdoch Children's Research Institute
Ingrid E SchefferUniversity of Melbourne
Lynette G SadleirUniversity of Otago
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