title: Glycine receptor antibodies in a boy with focal epilepsy and episodic behavioral disorder.
abstract: A wide range of clinical presentations including neuromuscular disorders and autoimmune encephalopathies is being recognized to be associated with various autoantibodies. Glycine receptor (GlyR) antibodies have so far been found mainly in adult patients with phenotypes comprising progressive encephalomyelitis with rigidity and myoclonus or stiff-person syndrome. We report a four-year-old boy who presented with a two-year-history of drug-resistant focal epilepsy with unusual seizure semiology, temper tantrums, headache, clumsiness, and intermittently impaired speech. While MRI and CSF were normal, screening for autoimmune antibodies revealed GlyR antibodies in serum. Immunomodulatory treatment with steroids resulted in rapid and complete resolution of symptoms. Our observation widens the spectrum of clinical presentations associated with GlyR antibodies and emphasizes the potential relevance of neuronal autoantibodies in epilepsies of unknown cause in children as well as in adults.
authors.affiliation: Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Georg August University Göttingen, Robert Koch Str. 40, 37075 Göttingen, Germany. Electronic address: eva-kristin.wuerfel@med.uni-goettingen.de.
authors.forename: Eva
authors.initials: E
authors.lastname: Wuerfel
authors.affiliation: Epilepsy Centre Bethel, Krankenhaus Mara, Bielefeld, Germany.
authors.forename: Christian G
authors.initials: CG
authors.lastname: Bien
authors.affiliation: Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.
authors.forename: Angela
authors.initials: A
authors.lastname: Vincent
authors.affiliation: Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.
authors.forename: Mark
authors.initials: M
authors.lastname: Woodhall
authors.affiliation: Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Georg August University Göttingen, Robert Koch Str. 40, 37075 Göttingen, Germany.
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
mesh_terms: D000906:Antibodies / Q000097:blood*; D002648:Child; D002653:Child Behavior Disorders / Q000097:blood* / Q000276:immunology; D004828:Epilepsies, Partial / Q000097:blood* / Q000188:drug therapy / Q000276:immunology; D057809:HEK293 Cells; D006801:Humans; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use; D009460:Neurologic Examination; D018009:Receptors, Glycine / Q000235:genetics / Q000276:immunology*; D014162:Transfection
chemical_list: D000906:Antibodies; D018009:Receptors, Glycine; D008775:Methylprednisolone
keywords: Autoimmune antibodies; Children; Encephalopathy; Epilepsy; Partial Seizures; Stiff-person syndrome