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January 08, 2019; 92 (2) Clinical/Scientific Notes

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency

View ORCID ProfileHugo Morales-Briceño, Florence C.F. Chang, Chong Wong, Amali Mallawaarachchi, Nigel Wolfe, Renata Pellegrino da Silva, View ORCID ProfileHakon Hakonarson, Sarah Annabella Sandaradura, View ORCID ProfileYiran Guo, John Christodoulou, Jim Lagopoulos, Padraic Grattan-Smith, Victor S.C. Fung
First published January 7, 2019, DOI: https://doi.org/10.1212/WNL.0000000000006744
Hugo Morales-Briceño
From the Movement Disorders Unit (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.
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  • ORCID record for Hugo Morales-Briceño
Florence C.F. Chang
From the Movement Disorders Unit (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.
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Chong Wong
From the Movement Disorders Unit (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.
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Amali Mallawaarachchi
From the Movement Disorders Unit (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.
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Nigel Wolfe
From the Movement Disorders Unit (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.
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Renata Pellegrino da Silva
From the Movement Disorders Unit (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.
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Hakon Hakonarson
From the Movement Disorders Unit (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.
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  • ORCID record for Hakon Hakonarson
Sarah Annabella Sandaradura
From the Movement Disorders Unit (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.
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Yiran Guo
From the Movement Disorders Unit (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.
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John Christodoulou
From the Movement Disorders Unit (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.
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Jim Lagopoulos
From the Movement Disorders Unit (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.
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Padraic Grattan-Smith
From the Movement Disorders Unit (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.
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Victor S.C. Fung
From the Movement Disorders Unit (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.
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Citation
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency
Hugo Morales-Briceño, Florence C.F. Chang, Chong Wong, Amali Mallawaarachchi, Nigel Wolfe, Renata Pellegrino da Silva, Hakon Hakonarson, Sarah Annabella Sandaradura, Yiran Guo, John Christodoulou, Jim Lagopoulos, Padraic Grattan-Smith, Victor S.C. Fung
Neurology Jan 2019, 92 (2) 94-97; DOI: 10.1212/WNL.0000000000006744

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The proband (patient 1), a 25-year-old woman, was the product of normal pregnancy and delivery. Her parents were first cousins from Lebanon. She sat at 6 months and crawled at 12 months. At age 3, she was noted to have developmental delay, hypotonia, and ataxia. The following year, she had a febrile illness and suspected absence seizure. EEG showed 4–5 Hz spike and slow wave complexes and she was treated with sodium valproate. At age 6, seizure frequency increased but improved with the addition of ethosuximide. Brain MRI at age 10 revealed increased T2 signal in both thalami and upper brainstem (figure). Serum and urinary amino acids, white blood cell lysosomal enzymes, serum lactate and pyruvate, liver function, and ammonia were normal. CSF neurotransmitters, glucose, and lactate were normal, although GABA was not measured. Her condition then remained static with occasional absence seizures. At age 22, she developed paroxysmal episodes of chorea in the neck, arms, and trunk associated with drowsiness, triggered by fever or hot weather (video 1). These occurred 4–5 times a year, lasting from 1 to 10 minutes. In all episodes, she remained responsive to verbal stimuli. Prolonged interictal video EEGs showed intermittent 4–6 Hz generalized epileptiform discharges, although no motor events were recorded.

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  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • ↵* These authors contributed equally to this work.

  • CME Course: NPub.org/cmelist

  • Received June 3, 2018.
  • Accepted in final form October 2, 2018.
  • © 2018 American Academy of Neurology
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Letters: Rapid online correspondence

  • Author response: Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency
    • Hugo Morales-Briceno, Neurologist, Movement Disorders Unit, Department of Neurology, Westmead Hospital and Sydney Medical School, University of Sydney, Sydney Aust
    • Victor SC Fung, Neurologist, Hospital and Sydney Medical School, University of Sydney, Sydney Aust
    Submitted August 07, 2019
  • Reader response: Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency
    • Parayil Sankaran Bindu, Paediatric Neurologist, Dept of Neurology, Children hospital at Westmead (Sydney, Australia)
    Submitted July 23, 2019
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