Large-scale structural alteration of brain in epileptic children with SCN1A mutation
نویسندگان
چکیده
منابع مشابه
Large-scale structural alteration of brain in epileptic children with SCN1A mutation
OBJECTIVE Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar ...
متن کاملEvaluation of life quality in children with epileptic diseases
Epilepsy is one of the disorders with chronic, recurrent and sudden changes in neurological function due to electrical dysfunction of brain. Previous studies have indicated that this disorder may affect the quality of life and could change it. The aim of this study was evaluation of life quality in children with epileptic diseases. This is a cohort and clinical trial study. Demographic data inc...
متن کاملEvaluation of life quality in children with epileptic diseases
Epilepsy is one of the disorders with chronic, recurrent and sudden changes in neurological function due to electrical dysfunction of brain. Previous studies have indicated that this disorder may affect the quality of life and could change it. The aim of this study was evaluation of life quality in children with epileptic diseases. This is a cohort and clinical trial study. Demographic data inc...
متن کاملprevalence of atopic dermatitis in children with type 1 diabetes mellitus in southeastern of iran (kerman province): a case-control study
چکیده ندارد.
15 صفحه اولA novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree
Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity. Here we report the molecular characterization of a large pedigree with a severe clinical form of GEFS+. Genetic linkage analysis implied the involvement of the FEB3 in the disease phenotype of this family (parametric two-point lod-score of 2.2). Sequencing...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: NeuroImage: Clinical
سال: 2017
ISSN: 2213-1582
DOI: 10.1016/j.nicl.2017.06.002