Issue 1/2026, Брой 1/2026, Articles

Genetic aspects of West syndrome – presentation oftwo clinical cases and review of the literature

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T. Paneva1, G. Tacheva1,2, V. Varbanova1,2, M. Krasteva1, D. Stamatov1, A. Todorova3, T. Todorov4, I. Yordanova4, I. Litvinenko1,2

1 Clinic of Child Neurology, SBAL of Children’s Diseases “Prof. Ivan Mitev” – Sofia 2 Department of Pediatrics, Medical University – Sofia 3 Department of Medical Chemistry and Biochemistry, Medical University – Sofia 4 GMDL “Genika” and SMDL “Genome Center Bulgaria” – Sofia

Abstract

West syndrome or infantile epileptic spasms syndrome is an age-specific epileptic encephalopathy with three main clinical features – hypsarrhythmia in the electroencephalogram, epileptic seizures of the infantile spasm type, and delay/regression in neuropsychological development in the affected infants.

According to the International League Against Epilepsy, etiological clarification of the diagnosis requires magnetic resonance imaging of the central nervous system, genetic analysis, and metabolic studies.Neuroimaging methods detect underlying pathology in 1/3 to ½ of patients – most commonly hypoxic-ischemic encephalopathy, congenital malformations of the central nervous system, perinatal vascular incidents, or tuberous sclerosis. The most common candidate genes associated with the development of infantile epileptic spasms syndrome are the ARX1 and CDKL5 genes, and among chromosomal abnormalities – trisomy 21. The genetic spectrum of the disease is expanding with the discovery of gene variants in STXBP, KCNQ2, GRIN2B, and GRIN2A genes.

The current diagnostic and therapeutic approach in patients with infantile epileptic spasms syndrome requires the routine use of genetic methods in clinical practice. Identifying the etiology allows for the application of targeted therapy, prediction of the clinical course, and in-depth understanding of the molecular mechanism of the disease.

This article aims to present two clinical cases of patients with a rare genetically determined cause of West syndrome and the possibilities for their medical treatment.

Keywords: epilepsy, whole exome sequencing, refractory epilepsy, developmental encephalopathy and epileptic encephalopathy, infantile spasms syndrome

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Address for correspondence:

T. Paneva

Clinic of Pediatric Neurology, Prof. Ivan Mitev Children‘s Hospital – Sofia
11, “Acad. Ivan Geshov”, Blvd.

1606, Sofia

e-mail: tpaneva22@gmail.com