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Paper Details

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia
9
2021
1q41-q42 deletion, 1q41-q42 microdeletion, Chromosome 1q41-q42 deletion, DEE, DEEs, FBXO28, FBXO28 encephalopathy, FBXO28 pathogenic variants, FBXO28 variants, Movement disorders, Patients, Seizures, WDR26, WDR26 encephalopathy, developmental and epileptic encephalopathies, developmental and epileptic encephalopathy, dysmorphic features, dysmorphology, epilepsy, hyperkinetic movement disorders, hypotonia, infantile spasms, intellectual disability, intellectual impairment, microcephaly, monogenic disease, multiple anomalies, patient, patients, progressive myoclonic epilepsy, seizures
Author NameAffiliation
Kathleen M GormanDepartment of Neurology and Clinical Neurophysiology
Kathleen M GormanUniversity College Dublin
Ariane SoldatosNational Institute of Neurological Disorders and Stroke, National Institutes of Health
Ingrid E SchefferRoyal Children's Hospital, University of Melbourne
Ingrid E SchefferFlorey Institute of Neuroscience and Mental Health
Ingrid E SchefferMurdoch Children's Research Institute, Royal Children's Hospital
Ingrid E SchefferEpilepsy Research Centre, The University of Melbourne
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Release 1.2