A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation
نویسندگان
چکیده
منابع مشابه
A 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 کاملVagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by childhood-onset epilepsy syndrome. It involves febrile seizures and a variety of afebrile epileptic seizure types within the same pedigree with autosomal-dominant inheritance. Approximately 10% of individuals with GEFS+ harbor SCN1A, a gene mutation in one of the voltage-gated sodium channel subunits. Considerably less comm...
متن کاملAxon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.
Febrile seizures are a common childhood seizure disorder and a defining feature of genetic epilepsy with febrile seizures plus (GEFS+), a syndrome frequently associated with Na+ channel mutations. Here, we describe the creation of a knockin mouse heterozygous for the C121W mutation of the beta1 Na+ channel accessory subunit seen in patients with GEFS+. Heterozygous mice with increased core temp...
متن کاملGeneralized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
The clinical and genetic relationships of febrile seizures and the generalized epilepsies are poorly understood. We ascertained a family with genealogical information in 2000 individuals where there was an unusual concentration of individuals with febrile seizures and generalized epilepsy in one part of the pedigree. We first clarified complex consanguineous relationships in earlier generations...
متن کاملSeizure and Behavioral Phenotyping of the Scn1a Mouse Model of Genetic Epilepsy with Febrile Seizures Plus
___________________________________ Date This dissertation meets the format and style requirements established by the Byrdine F. Lewis School of Nursing and Health Professions. It is acceptable for binding, for placement in the University Library and Archives, and for reproduction and distribution to the scholarly and lay community by University Microfilms International. In presenting this diss...
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: Neurobiology of Disease
سال: 2009
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2009.04.007