title: A clinico-radiological phenotype of voltage-gated potassium channel complex antibody-mediated disorder presenting with seizures and basal ganglia changes.
abstract: In childhood, central nervous system (CNS) presentations associated with antibodies to voltage-gated potassium channel (VGKC) complex include limbic encephalitis, status epilepticus, epileptic encephalopathy, and autistic regression. We report the cases of two individuals (a 6-year-old male and an 11-year-old female) who presented with an acute-onset explosive seizure disorder with positive VGKC complex antibodies and bilateral basal ganglia changes on magnetic resonance imaging (MRI). Both patients made a complete clinical recovery, without immunotherapy, with resolution of the MRI changes and normalization of the antibody levels. Extended antibody testing, including testing for leucine-rich glioma-inactivated 1 (LGI1), contactin-associated protein 2, and contactin-2 was negative. This could suggest that the clinico-radiological phenotype in our patients may in fact be associated with a novel autoreactive target(s) within the VGKC complex, as may be the case in other children with VGKC complex-mediated CNS disorders.
authors: Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
authors: Yael
authors: Y
authors: Hacohen
authors: Sukhvir
authors: S
authors: Wright
authors: Ata
authors: A
authors: Siddiqui
authors: Nikki
authors: N
authors: Pandya
authors: Jean-Pierre
authors: JP
authors: Lin
authors: Angela
authors: A
authors: Vincent
authors: Ming
authors: M
authors: Lim
mesh_terms: D020817:Asperger Syndrome / Q000175:diagnosis / Q000276:immunology; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000276:immunology*; D002648:Child; D058967:Contactin 1 / Q000276:immunology; D058969:Contactin 2 / Q000276:immunology; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000276:immunology*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D024642:Potassium Channels, Voltage-Gated / Q000276:immunology*; D011506:Proteins / Q000276:immunology; D011859:Radiography; D015531:Radioimmunoprecipitation Assay / Q000379:methods
chemical_list: C548669:CNTN1 protein, human; C548674:CNTN2 protein, human; D058967:Contactin 1; D058969:Contactin 2; D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D024642:Potassium Channels, Voltage-Gated; D011506:Proteins