The role of genetic sequencing in the practice of pediatric neurologist for the diagnosis of rare neurological diseases, prognosis and targeted therapy


  • T.I. Bocherova Odesa National Medical University, Odesa, Ukraine
  • O.V. Kubariev Children’s City Clinical Hospital 3, Odesa, Ukraine
  • Yu.O. Untilova Children’s City Clinical Hospital 3, Odesa, Ukraine
  • Yu.O. Holovashych Children’s City Clinical Hospital 3, Odesa, Ukraine
  • Ye.V. Buksha Children’s City Clinical Hospital 3, Odesa, Ukraine



epilepsy, genetic research, clinical case, sequencing, topiramate


Epilepsy can be the result of primary genetic abnormalities or secondary to well-defined structural or metabolic disorders, some of which also have genetic causes. Case 1 presents a genetic sequencing (leukodystrophy panel) in a child and a mutation in the GALC gene of homozygous type located on chromosome 14, which is associated with Krabbe disease inherited by autosomal recessive type. At the time of publication of the article, the child M. was aged one year and six months, body mass 5800 g; the disease is steadily progressing. The child presented with amaurosis, pseudobulbar disorders (fed through a tube), spastic tetraparesis. The child often got sick with viral and bacterial infections, pneumonia. Case 2 presented child M., a girl aged 7 months. She was admitted to the Neurology Department with complaints of partial bilateral ptosis, stridor breathing, loss of physical skills. Genetic sequencing was performed, a mutation in the SCO2 gene in homozygous form was detected. This gene is associated with autosomal recessive cardiomyoencephalopathy caused by mitochondrial complex IV deficiency. This is an autosomal recessive severe mitochondrial disease, which disrupts energy metabolism in all vital organs (heart, lungs, brain). There is currently no effective treatment for this disease. The child’s condition was progressively deteriorating. Unfortunately, at the age of 9 months, the child succumbed to cardiorespiratory insufficiency. Case 3 presented a boy aged one year and five months. He was admitted to the Neurological Hospital with complaints of frequent serial seizures in the form of synchronous, symmetrical, lightning twitches of the upper shoulder girdle (arms bent at the elbows, with each twitch — step by step up). The genetic testing revealed a mutation in the CACNA1H gene c.1912G>A (p.Gly638Ser), a heterozygous form. Valproate was replaced by topiramate based on genetic testing. After the change of therapy, the child showed sharply positive changes in the condition and the results of the EEG study.


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How to Cite

Bocherova, T., Kubariev, O., Untilova, Y., Holovashych, Y., & Buksha, Y. (2022). The role of genetic sequencing in the practice of pediatric neurologist for the diagnosis of rare neurological diseases, prognosis and targeted therapy. INTERNATIONAL NEUROLOGICAL JOURNAL, 18(2), 21–26.



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