新创ATP1A1变异的早发性复杂的神经发育综合症

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.

从约翰·t·麦克唐纳基金会(M.F.D.博士年费利率,,S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.