Sodium voltage-gated channel alpha subunit 1gene (SCN1A)‎ among epileptic Sudanese patients

الملخص EN

Background: Epilepsy is a pathological condition characterized by recurrent, unprovoked, epileptic seizures the SCN1Agene represents one of the most commonly mutated human epilepsy genes.

Aim: The study aimed to investigate mutated SCN1A gene in patients with idiopathic epilepsy.

It also determined the serum level of sodium, potassium.

Methods: the current study is a cross-sectional study that had been performed at Sheikh Mohamed Khair Centre, Banat, Omdurman, and National Centre for Neurological Sciences (NCNS) Khartoum state, during the period from November 2016 to February 2019.

A total of 100 patients were enrolled in this study.Sodium and Potassium concentrations were obtained by the full automated Easylyte instrument (Na/K analyzer) and the SCN1A gene which located on chromosome 2 of humans, using convential PCR.

The data were analyzed using SPSS version (25) and bioinformatics tools were used to analyze sequencing results.

Results: One hundred subjects were recruited in this study, (47% males and 53% females) diagnosed with epilepsy.

Patients aged between 18-40 years old were the highest category with a 55%.

Onset of seizure was in age group of less than 5 yrs were 50% of the patients, in age group 5-10 yrs 28% and more than10 yrs were 22%.

Ninety percent of the patients had a Family history with epilepsy while the rest of them (10%) had not.

Generalize epilepsy presented in 68% focal to bilateral in 26% and focal in 6 patients two of them(2%) developed impairment.

Serum sodium and potassium analysis showed normal results, mean 134.82 mg/dl, 3.65 mmol/l, respectively.

All patients were tested positive for SCN1A gene.

Conclusion: Genetic mutations have an effective role in developing epilepsy.

AT deletion in SCN1A gene, indirectly affects gamma amino butyric acid function.