Article
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Epilepsia - 1 Jan 2018
Carvill Gemma L, Liu Aijie, Mandelstam Simone, Schneider Amy, Lacroix Amy, Zemel Matthew, McMahon Jacinta M, Bello-Espinosa Luis, Mackay Mark, Wallace Geoffrey, Waak Michaela, Zhang Jing, Yang Xiaoling, Malone Stephen, Zhang Yue-Hua, Mefford Heather C, Scheffer Ingrid E
Abstract excerpt
Heterozygous de novo variants in the autophagy gene, WDR45, are found in beta-propeller protein-associated neurodegeneration (BPAN). BPAN is characterized by adolescent onset dementia and dystonia; 66% patients have seizures. We asked whether WDR45 was associated with developmental and epileptic encephalopathy (DEE). We performed next generation sequencing of WDR45 in 655 patients with developmental and epileptic...
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