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Autoantibodies that bind to voltage-gated potassium-channel complex proteins (VGKC-complex antibodies) occur frequently in adults with limbic encephalitis presenting with cognitive impairment and seizures. Recently, VGKC-complex antibodies have been described in a few children with limbic encephalitis, and children with unexplained encephalitis presenting with status epilepticus. We report a case of infantile-onset epileptic spasms and developmental delay compatible with epileptic encephalopathy. Our patient was a female infant, aged 4 months at presentation. She had evidence of immune activation in the central nervous system with elevated cerebrospinal fluid neopterin and mirrored oligoclonal bands, which prompted testing for autoantibodies. VGKC-complex antibodies were elevated (201 pmol/L, normal<100), but extended antibody testing, including leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2), was negative. The patient showed a partial response to steroid treatment, which was started late in the disease course. On review at 13 months of age, her development was consistent with an age of 5 to 6 months. These results suggest that VGKC-complex antibodies might represent a marker of immune therapy responsiveness in a subgroup of patients with infantile epileptic encephalopathy.

Original publication

DOI

10.1111/j.1469-8749.2011.04096.x

Type

Journal article

Journal

Dev Med Child Neurol

Publication Date

11/2011

Volume

53

Pages

1058 - 1060

Keywords

Autoantibodies, Child, Preschool, Electroencephalography, Epilepsy, Female, Humans, Intellectual Disability, Lennox Gastaut Syndrome, Magnetic Resonance Imaging, Potassium Channels, Voltage-Gated, Spasms, Infantile, Steroids