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AIM: Cryptogenic forms of epileptic encephalopathies (EE) with their well-known features of drug-resistance, mental deterioration and partial response to immunotherapies are ideal candidates for screening for neuronal autoantibodies (NAA). METHOD: Fifty consecutive pediatric patients with a diagnosis of EE of unknown cause were included. Nine NAAs were tested by ELISA, RIA or cell-based assays. Clinical features of seronegative and seropositive patients were compared. RESULTS: NAAs were found in 7/50 (14%) patients. They were N-methyl-d-aspartate receptor in two (4%), glycine receptor in two (4%), contactin-associated protein-like 2 in one (2%), glutamic acid decarboxylase in one (2%) and type A gamma aminobutyric acid receptor in one patient (2%). Furthermore, serum IgGs of two patients negative for well-characterized NAAs, showed strong reactivity with the uncharacterized membrane antigens of live hippocampal neurons. There were no significant differences between seropositive and seronegative patients by means of epilepsy duration, anti-epileptic drug resistance, EE type, types of seizures, seizure frequencies, EEG features or coexisting autoimmune diseases. Some seropositive patients gave good-moderate response to immunotherapy. DISCUSSION: Potential clues for the possible role of autoimmunity in seropositive patients with EE were atypical prognosis of the classical EE type, atypical progression and unusual neurological findings like dyskinesia.

Original publication

DOI

10.1016/j.braindev.2018.06.002

Type

Journal article

Journal

Brain Dev

Publication Date

11/2018

Volume

40

Pages

909 - 917

Keywords

Epileptic encephalopathy, Immune-mediated epilepsy, Lennox-Gastaut syndrome, Neuronal auto-antibodies, West syndrome, Adolescent, Adult, Autoantibodies, Child, Child, Preschool, Epilepsy, Female, Follow-Up Studies, Humans, Infant, Lennox Gastaut Syndrome, Male, Membrane Proteins, Neurons, Receptors, Neurotransmitter, Spasms, Infantile, Young Adult