Article
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia - 1 Jan 2021
Schneider Amy L, Myers Candace T, Muir Alison M, Calvert Sophie, Basinger Alice, Perry M Scott, Rodan Lance, Helbig Katherine L, Chambers Chelsea, Gorman Kathleen M, King Mary D, Donkervoort Sandra, Soldatos Ariane, Bönnemann Carsten G, Spataro Nino, Gabau Elisabeth, Arellano Montserrat, Cappuccio Gerarda, Brunetti-Pierri Nicola, Rossignol Elsa, Hamdan Fadi F, Michaud Jacques L, Balak Christopher, Mefford Heather C, Scheffer Ingrid E
Abstract excerpt
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...
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