title: Focal status epilepticus and progressive dyskinesia: A novel phenotype for glycine receptor antibody-mediated neurological disease in children.
abstract: BACKGROUND
  Antibody-associated disorders of the central nervous system are increasingly recognised in adults and children. Some are known to be paraneoplastic, whereas in others an infective trigger is postulated. They include disorders associated with antibodies to N-methyl-d-aspartate receptor (NMDAR), voltage-gated potassium channel-complexes (VGKC-complex), GABABreceptor or glycine receptor (GlyR). With antibodies to NMDAR or VGKC-complexes, distinct clinical patterns are well characterised, but as more antibodies are discovered, the spectra of associated disorders are evolving. GlyR antibodies have been detected in patients with progressive encephalopathy with rigidity and myoclonus (PERM), or stiff man syndrome, both rare but disabling conditions.
  
  
  METHODS
  We report a case of a young child with focal seizures and progressive dyskinesia in whom GlyR antibodies were detected. Anticonvulsants and immunotherapy were effective in treating both the seizures and movement disorder with good neurological outcome and with a decline in the patient's serum GlyR-Ab titres.
  
  
  CONCLUSIONS
  Glycine receptor antibodies are associated with focal status epilepticus and seizures, encephalopathy and progressive dyskinesia and should be evaluated in autoimmune encephalitis.
authors.affiliation: Paediatric Neurology, KK Women's and Children's Hospital, Singapore. Electronic address: Derrick.Chan.W.S@singhealth.com.sg.
authors.forename: D W S
authors.initials: DWS
authors.lastname: Chan
authors.affiliation: Paediatric Neurology, KK Women's and Children's Hospital, Singapore.
authors.forename: T
authors.initials: T
authors.lastname: Thomas
authors.affiliation: Department of Paediatric Neurosciences, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, King's Health Partners AHSC, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Lim
authors.affiliation: Paediatric Neurology, KK Women's and Children's Hospital, Singapore.
authors.forename: S
authors.initials: S
authors.lastname: Ling
authors.affiliation: Department of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford, UK.
authors.forename: M
authors.initials: M
authors.lastname: Woodhall
authors.affiliation: Department of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford, UK.
authors.forename: A
authors.initials: A
authors.lastname: Vincent
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001323:Autoantibodies / Q000097:blood; D002675:Child, Preschool; D020820:Dyskinesias / Q000150:complications / Q000188:drug therapy* / Q000276:immunology*; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use; D009127:Muscle Rigidity / Q000150:complications / Q000188:drug therapy / Q000276:immunology; D009207:Myoclonus / Q000150:complications / Q000188:drug therapy / Q000276:immunology; D010641:Phenotype; D018009:Receptors, Glycine / Q000276:immunology*; D013226:Status Epilepticus / Q000150:complications / Q000188:drug therapy* / Q000276:immunology*
chemical_list: D000927:Anticonvulsants; D001323:Autoantibodies; D016756:Immunoglobulins, Intravenous; D018009:Receptors, Glycine; D008775:Methylprednisolone
keywords: Autoimmune encephalitis; Dyskinesia; Glycine receptor antibody; Paediatric; Status epilepticus