title: De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+).
abstract: Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations.
authors.affiliation: Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Emmilia Husni
authors.initials: EH
authors.lastname: Tan
authors.forename: Salmi Abdul
authors.initials: SA
authors.lastname: Razak
authors.forename: Jafri Malin
authors.initials: JM
authors.lastname: Abdullah
authors.forename: Abdul Aziz
authors.initials: AA
authors.lastname: Mohamed Yusoff
mesh_terms: D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008296:Malaysia; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D003294:Seizures, Febrile / Q000150:complications / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human