A clinico-radiological phenotype of voltage-gated potassium channel complex antibody-mediated disorder presenting with seizures and basal ganglia changes.

Journal article

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: Hacohen, Y; Wright, S; Siddiqui, A; Pandya, N; Lin, J

• Publication status: Published
• Journal: Developmental medicine and child neurology
• Volume: 54
• Issue: 12
• Pages: 1157-1159
• Publication date: 2012-12-01
• DOI: 10.1111/j.1469-8749.2012.04366.x
• EISSN: 1469-8749
• ISSN: 0012-1622
• Language: English
• Keywords: Magnetic Resonance Imaging; Female; Humans; Potassium Channels, Voltage-Gated; Epilepsy; Asperger Syndrome; Basal Ganglia; Contactin 2; Phenotype; Radioimmunoprecipitation Assay; Male; Proteins; Contactin 1; Diagnosis, Differential; Child