GABA转氨酶缺乏症伴嗜睡的阵发性运动障碍和丘脑病变

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

运动障碍组(h.m.b。，F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.