A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload

Authors:	Kathryn J. Swoboda Rebecca L. Margraf John C. Carey Holly Zhou Tara M. Newcomb Emily Coonrod Jacob Durtschi Kalyan Mallempati Attila Kumanovics Ben E. Katz Karl V. Voelkerding John M. Opitz

Affiliation:	1. Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah;2. Correspondence to:;3. Kathryn J. Swoboda, M.D., F.A.C.M.G., Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, 30 North, 1900 East, 3R149, Salt Lake City, UT 84132.;4. E‐mail:;5. ARUP Institute for Clinical and Experimental Pathology?, ARUP Laboratories, Salt Lake City, Utah;6. Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah;7. Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah;8. Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah;9. Private Practice of Pediatrics and Pediatric Neurology, Twin Falls, Idaho;10. Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah

Abstract:

Keywords:	iron Ferro‐Cerebro‐Cutaneous syndrome exome sequencing PIGA PIG‐A protein epilepsy encephalopathy hemochromatosis microcephaly cerebellar atrophy seizures neurodegeneration X‐linked recessive

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