Epileptic Disorders
MENUFlashing lights and epileptic spasms: should we be routinely performing intermittent photic stimulation in infants? Volume 24, numéro 1, February 2022
TEST YOURSELF
(1) What is an abnormal response to photic stimulation called and how is it tested for on EEG?
(2) What is ALG13?
(3) When is the peak onset of infantile spasms?
Answers
(1) Photosensitivity- tested with intermittent photic stimulation.
(2) ALG13 is the gene that encodes for asparagine-linked glycosylation 13. Pathogenic mutations (e.g. c320A>G [p.Asn107Ser]) result in an X-linked dominant developmental and epileptic encephalopathy with drug-resistant epilepsy, typically with epileptic spasms and hypsarrhythmia as well as developmental delay, regression, and visual impairment.
(3) Four to eight months.