Interneuron Dysfunction in a New Mouse Model of SCN1A GEFS+
نویسندگان
چکیده
منابع مشابه
A 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 کاملVariable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A
PURPOSE To describe the spectrum of clinical disease in a mutliplex family with an autosomal dominant form of generalized epilepsy with febrile seizures plus (GEFS+) and determine its genetic etiology. METHODS Medical and family history was obtained on 11 clinically affected individuals and their relatives across three generations through medical chart review and home visits. A candidate gene...
متن کاملImmunogenicity of a New HIV-1 DNA Construct in a BALB/c Mouse Model
Background: Cell mediated immunity, especially cytotoxic T cell responses against HIV-1 infection, plays a critical role in controlling viral replication and disease progres-sion. DNA vaccine is a novel technology which is known to stimulate strong cellular immune responses. Many DNA vaccines have been tested for HIV infection but there is still no effective vaccine against this infection. Cons...
متن کاملA BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.
Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI). To determine the effects of SCN1A mutations on channel function in vivo, we generated a bacterial artificial chromosome (BAC) transgenic mouse model that expresses the human SCN1A ...
متن کاملa fundamental study of "histiriographic metafiction", and "literary genres", as introduced in "new historical philosophy", and tracing them in the works of julian barnes.
abstract a fundamental study of “historio-graphic metafiction” and “literary genres”, as introduced in “new historical philosophy”, and tracing them in the works of julian barnes having studied the two novels, the porcupine and arthur & george, by julian barnes, the researcher has applied linda hutcheon’s historio-graphic metafictional theories to them. the thesis is divided into five cha...
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ژورنال
عنوان ژورنال: eneuro
سال: 2021
ISSN: 2373-2822
DOI: 10.1523/eneuro.0394-20.2021