Journal article

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Amy L Schneider, Candace T Myers, Alison M Muir, Sophie Calvert, Alice Basinger, M Scott Perry, Lance Rodan, Katherine L Helbig, Chelsea Chambers, Kathleen M Gorman, Mary D King, Sandra Donkervoort, Ariane Soldatos, Carsten G Bonnemann, Nino Spataro, Elisabeth Gabau, Montserrat Arellano, Gerarda Cappuccio, Nicola Brunetti-Pierri, Elsa Rossignol Show all

Epilepsia | WILEY | Published : 2020

Abstract

Chromosome 1q41-q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41-q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41-q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41-q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsen..

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Grants

Funding Acknowledgements

National Institute of Neurological Disorders and Stroke; Citizens United for Research in Epilepsy; March of Dimes Foundation; National Health and Medical Research Council; Temple Street Foundation; Australian Epilepsy Research Fund; Telethon Undiagnosed Diseases Program; Health Research Council of New Zealand; Fondazione Telethon