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   Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations  
   
نویسنده Hortigüela Montesclaros ,Fernández-Marmiesse Ana ,Cantarín Verónica ,Gouveia Sofía ,García-Peñas Juan J ,Fons Carmen ,Armstrong Judith ,Barrios Desirée ,Díaz-Flores Felícitas ,Tirado Pilar ,Couce María L ,Gutiérrez-Solana Luis G
منبع journal of human genetics - 2017 - دوره : 62 - شماره : 2 - صفحه:185 -189
چکیده    The kcnq2 gene codifies a subunit of the voltage-gated potassium m channel underlying the neuronal m-current. classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years kcnq2 mutations have been reported associated to early-onset epileptic encephalopathy. in this work, detailed familiar, clinical and genetic data were collected for 13 kcnq2-positive patients revealed among a cohort of 80 epileptic pediatric probands from spain who were analyzed through a targeted next-generation sequencing assay for 155 epilepsy-associated genes. this work shows for the first time the association between kcnq2 mutations and startle attacks in 38% of patients, which opens the possibility to define electroclinical phenotypes associated to kcnq2 mutations. it also demonstrates that kcnq2 mutations contribute to an important percentage of spanish patients with epilepsy. the study confirm the high genetic heterogeneity of this gene with 13 different mutations found, 10 of them novel and the better outcome of patients treated with sodium channel blockers.
آدرس Hospital Infantil Universitario Niño Jesús de Madrid, Department of Pediatrics, Unit of Child Neurology, Spain, Health Research Institute of Santiago de Compostela (IDIS), Unit of Diagnosis and Treatment of Inborn Errors of Metabolism (UDyTEMC), Spain, Hospital Infantil Universitario Niño Jesús de Madrid, Department of Pediatrics, Unit of Child Neurology, Spain, Health Research Institute of Santiago de Compostela (IDIS), Unit of Diagnosis and Treatment of Inborn Errors of Metabolism (UDyTEMC), Spain, Hospital Infantil Universitario Niño Jesús de Madrid, Department of Pediatrics, Unit of Child Neurology, Spain, Hospital Sant Joan de Deu, Department of Pediatrics, Unit of Child Neurology, Spain, Hospital Sant Joan de Déu, Laboratory Department, Genetics and Rett Unit, Spain, Department of Pediatrics. Hospital Universitario de Canarias, Spain, Hospital Universitario de Canarias, Molecular Genetics Unit, Spain, Hospital Universitario la Paz, Department of Pediatrics, Unit of Child Neurology, Spain, Health Research Institute of Santiago de Compostela (IDIS), Unit of Diagnosis and Treatment of Inborn Errors of Metabolism (UDyTEMC), Spain. Instituto de Salud Carlos III, Spain, Hospital Infantil Universitario Niño Jesús de Madrid, Department of Pediatrics, Unit of Child Neurology, Spain
 
     
   
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