Abstract for presentation at 11th International Congress of Human Genetics

Clinical and molecular genetic analysis of idiopathic generalized epilepsy in Kuwaiti Arab children

  • Prof Mohammad Haider, Kuwait University, Faculty of Medicine, Pediatrics Department, Kuwait
  • Dr Yousuf Habeeb, Pediatrics Department, Mubarak Al-Kabeer Hospital, Kuwait
  • Dr Asma Al-Tawari, Pediatric Neurology Unit, Sabah Hospital, Kuwait
  • Dr Maleeha Al-Bloushi, Pediatrics Department, Mubarak Al-Kabeer Hospital, Kuwait
  • Dr Hussein Al-Anzi, Pediatrics Department, Farwania Hospital, Kuwait
  • Dr Enam Al-Nakkas, Pediatrics Department, Farwania Hospital, Kuwait

    • Idiopathic generalized epilepsies (IGEs) are common types of epilepsy in childhood and adolescence. A variety of data suggest that IGEs have a predominant genetic etiology. Recently, a number of gene mutations have been associated with various types of epilepsy in Caucasian populations. This study included forty five Kuwaiti patients with a confirmed diagnosis of epilepsy. Most of the patients have had a diagnostic EEG with generalized spike-wave discharges (GSWs). All patients were evaluated by using a validated seizure questionnaire. The clinical type of epilepsy was determined by a trained neurologist/pediatrician. Blood samples were collected from all patients, DNA isolated and analyzed by molecular methods. A FokI polymorphism in neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) gene was detected by PCR-RFLP method. A missense mutation (Ser248Phe) in CHRNA4 gene was analyzed by PCR-RFLP using HpaII. A C121W mutation in sodium-channel beta-1 subunit (SCN1B) gene was screened by a PCR-RFLP method using HinPI. A 2-bp deletion in cystatin B gene was detected by PCR-RFLP using XcmI. The incidences of the three FokI polymorphism genotypes in Kuwaiti IGE patients were 1,1 (85%); 1,2 (14%) and 2,2 (1%) respectively. The missense mutation Ser248Phe of CHRNA4 gene was not detected at all in Kuwaiti IGE patients. The C387G transversion resulting in C121W change in third exon of the SCN1B gene was detected in 1/45 patients (2.2%). The patient carrying this mutation also exhibited febrile seizures. The incidence of 2 bp deletion in cystatin B gene was found to be 4% (2/45) in IGE patients. The data show a lack of association between three candidate genes and clinical expression of IGE in Kuwaiti Arab children. This is different from previous reports in Caucasian populations of France, Australia and USA where a strong association has been reported between IGE and these genes.

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