title: Milder phenotype with SCN1A truncation mutation other than SMEI.
abstract: Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients. In this research we first identified two novel de novo truncation mutations (S662X and M145fx148) in two patients whose phenotypes were quite milder compared with SMEI patients. One patient was diagnosed as generalized epilepsy with febrile seizures plus (GEFS+); the other had focal seizures. Both patients had good response to anti-epileptic therapy (valproate or the combination of valproate and topiramate). Our findings extended the utility of the SCN1A gene testing and further confirmed the complex relationship between genotype and phenotype of SCN1A mutations. Further work is needed to optimize the protocol for specific genetic testing in children with epilepsy.
authors.affiliation: Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical College and Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
authors.forename: Mei-Juan
authors.initials: MJ
authors.lastname: Yu
authors.forename: Yi-Wu
authors.initials: YW
authors.lastname: Shi
authors.forename: Mei-Mei
authors.initials: MM
authors.lastname: Gao
authors.forename: Wei-Yi
authors.initials: WY
authors.lastname: Deng
authors.forename: Xiao-Rong
authors.initials: XR
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Chen
authors.forename: Yue-Sheng
authors.initials: YS
authors.lastname: Long
authors.forename: Yong-Hong
authors.initials: YH
authors.lastname: Yi
authors.forename: Wei-Ping
authors.initials: WP
authors.lastname: Liao
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D001483:Base Sequence; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004831:Epilepsies, Myoclonic / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005632:Fructose / Q000031:analogs & derivatives / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D000077236:Topiramate; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels; D000077236:Topiramate; D005632:Fructose; D014635:Valproic Acid