منابع مشابه
A rat model for LGI1-related epilepsies.
Mutations of the leucine-rich glioma-inactivated 1 (LGI1) gene cause an autosomal dominant partial epilepsy with auditory features also known as autosomal-dominant lateral temporal lobe epilepsy. LGI1 is also the main antigen present in sera and cerebrospinal fluids of patients with limbic encephalitis and seizures, highlighting its importance in a spectrum of epileptic disorders. LGI1 encodes ...
متن کاملinvestigating the feasibility of a proposed model for geometric design of deployable arch structures
deployable scissor type structures are composed of the so-called scissor-like elements (sles), which are connected to each other at an intermediate point through a pivotal connection and allow them to be folded into a compact bundle for storage or transport. several sles are connected to each other in order to form units with regular polygonal plan views. the sides and radii of the polygons are...
Outcomes in newly diagnosed localization-related epilepsies
A total of 558 patients with a range of localization-related epilepsy syndromes starting treatment in a single centre were followed over a period of up to 20 years. Overall, 343 (62%) patients became seizure free for 12 months or more (responders), 92% of whom (57% of total population) remained in remission until the end of follow-up. Only 27 (5%) responders relapsed and subsequently developed ...
متن کاملA Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins
Mutations of human leucine-rich glioma inactivated (LGI1) gene encoding the epitempin protein cause autosomal dominant temporal lateral epilepsy (ADTLE), a rare familial partial epileptic syndrome. The LGI1 gene seems to have a role on the transmission of neuronal messages but the exact molecular mechanism remains unclear. In contrast to other genes involved in epileptic disorders, epitempin sh...
متن کاملAutoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors.
More than 30 mutations in LGI1, a secreted neuronal protein, have been reported with autosomal dominant lateral temporal lobe epilepsy (ADLTE). Although LGI1 haploinsufficiency is thought to cause ADLTE, the underlying molecular mechanism that results in abnormal brain excitability remains mysterious. Here, we focused on a mode of action of LGI1 autoantibodies associated with limbic encephaliti...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2012
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/dds184