Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome

The predominant etiology of IESS is structural, succeeded by genetic factors, with significant pathogenic genes comprising <i>TSC2, NF1, SCN8A</i>, and <i>KCNQ2</i>. The genetic classifications exhibit geographic variability. Genetic and structural etiologies are frequently linked to an unfavorable prognosis. Genetic testing can help clarify the etiology of IESS when metabolic screening and brain MRI results are negative. The advancement of genetic testing is crucial for future targeted and individualized diagnosis and therapy.