Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Summary 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 epile...

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Veröffentlicht in:	Epilepsia (Copenhagen) 2018-01, Vol.59 (1), p.e5-e13
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autophagy Brain - diagnostic imaging Carrier Proteins - genetics Child Child, Preschool Children de novo variant DEE Dementia disorders Developmental Disabilities - diagnostic imaging Developmental Disabilities - genetics Dystonia Encephalopathy Epilepsy Female genetics Humans Infant Magnetic Resonance Imaging Male Mutation Mutation - genetics Neurodegeneration Phagocytosis Seizures Spasms, Infantile - complications Spasms, Infantile - diagnostic imaging Spasms, Infantile - genetics Substantia nigra
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