Recent studies suggest that mutations in the LGI1/Epitempin gene cause autosomal (dominant lateral temporal epilepsy. This gene encodes a protein of unknown function, which we postulate is secreted. The LGI1 protein has leucine-rich repeats in the N-terminal sequence and a tandem repeat (which we named EPTP) in its G-terminal region. A redefinition of the G-terminal repeat and the application of sensitive sequence analysis methods enabled us to define a new superfamily of proteins carrying varying numbers of the novel EPTP repeats in combination with various extracellular domains. Genes encoding proteins of this family are located in genomic regions associated with epilepsy and other neurological disorders
The novel EPTP repeat defines a superfamily of proteins with implications in epileptic disorders
Nobile C;
2002
Abstract
Recent studies suggest that mutations in the LGI1/Epitempin gene cause autosomal (dominant lateral temporal epilepsy. This gene encodes a protein of unknown function, which we postulate is secreted. The LGI1 protein has leucine-rich repeats in the N-terminal sequence and a tandem repeat (which we named EPTP) in its G-terminal region. A redefinition of the G-terminal repeat and the application of sensitive sequence analysis methods enabled us to define a new superfamily of proteins carrying varying numbers of the novel EPTP repeats in combination with various extracellular domains. Genes encoding proteins of this family are located in genomic regions associated with epilepsy and other neurological disordersI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
