Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR
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ORIGINAL ARTICLE
Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR) polymorphisms Elif Karatoprak 1
&
Gulhan Sozen 2 & Kutluhan Yılmaz 3 & Işıl Ozer 4
Received: 14 July 2019 / Accepted: 19 October 2019 # Fondazione Società Italiana di Neurologia 2019
Abstract Objective Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. MTHFR C677T and A1298C polymorphisms are best-defined variants of MTHFR that were reported to be associated with epilepsy development. The aim of the study was to determine the incidence of interictal epileptiform discharges on electroencephalography (EEG) in asymptomatic children with C677T and A1298C polymorphisms who had no history of seizure. Methods Children with MTHFR C677T or A1298C polymorphisms who had normal neurological examination without a history of seizure were included in the study. Blood samples for serum folate, vitamin B12, and homocysteine levels were analyzed. Sleep and awake electroencephalograms (EEG) were recorded. Results A total of 102 children (50 girls and 52 boys) with a mean age of 59.4 ± 58.7 months were included in the study. Interictal epileptiform EEG discharges were detected in 3 children (2.9%). Conclusion There was no increase in the prevalence of interictal epileptiform discharges in seizure-free and asymptomatic children with MTHFR C677T and A1298C polymorphisms. Keywords MTHFR . Polymorphism . Children . Electroencephalography
Introduction
* Elif Karatoprak [email protected] Gulhan Sozen [email protected] Kutluhan Yılmaz [email protected] Işıl Ozer [email protected] 1
Department of Pediatric Neurology, Faculty of Medicine, Medeniyet University, Istanbul, Turkey
2
Umraniye Training and Research Hospital Department of Pediatric Neurology, Umraniye, Istanbul, Turkey
3
Department of Pediatric Neurology, Faculty of Medicine, Ordu University, Ordu, Turkey
4
Department of Pediatric Metabolism, Faculty of Medicine, Mayıs University, Samsun, Turkey
Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. It catalyzes the reaction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate to give a methyl group to homocysteine for the formation of methionine [1]. In severe MTHFR deficiency, where enzyme activity is 0–20%, clinical features such as developmental delay, hypotonia, neurological and psychiatric disorders, stroke, and thrombosis could be observed [1–4]. Besides, MTHFR C677T and A1298C polymorphisms are identified that cause mild MTHFR enzyme deficiency. C677T polymorphism, one of the best-defined variants of MTHFR, reduces the enzyme activity by 70% and 35% in homozygotes and heterozygotes individuals, respectively [5, 6]. The frequency of this polymorphism is 10–20% in different populations [4]. This polymorphism is reported to increase the risk of neural tube defects, cardiovascular and cerebrovascular diseases, neuropsychiatric diseases, and pregnancy complicati
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