A Novel Loss-of-Function LGI1 Mutation Linked to Autosomal Dominant Lateral Temporal Epilepsy
نویسندگان
چکیده
منابع مشابه
ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy
Autosomal dominant lateral temporal epilepsy (ADTLE) is an inherited epileptic syndrome characterized by ictal auditory symptoms or aphasia, negative MRI findings, and relatively benign evolution. Mutations responsible for ADLTE have been found in the LGI1 gene. The functions of the Lgi1 protein apparently are mediated by interactions with members of the ADAM protein family: it binds the postsy...
متن کاملA newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy
PURPOSE A new leucine-rich glioma-inactivated 1 gene (LGI1) mutation inducing an amino acid sequence substitution was found in a Korean family with autosomal dominant lateral temporal lobe epilepsy (ADLTE). We report the clinical features and characteristics of this newly identified LGI1 mutation. METHODS Clinical data were collected from a large ADLTE family. All exons and flanking regions o...
متن کاملMutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two families affected by this disorder. Both mutations introduce premature stop co...
متن کاملTwo novel epilepsy-linked mutations leading to a loss of function of LGI1.
BACKGROUND Mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene have been implicated in autosomal dominant lateral temporal epilepsy. OBJECTIVE To describe the clinical and genetic findings in 2 families with autosomal dominant lateral temporal epilepsy and the functional consequences of 2 novel mutations in LGI1. DESIGN Clinical, genetic, and functional investigations. SETTING...
متن کاملLGI1 mutations in autosomal dominant partial epilepsy with auditory features.
OBJECTIVE S: Mutations in LGI1 cause autosomal dominant partial epilepsy with auditory features (ADPEAF), a form of familial temporal lobe epilepsy with auditory ictal manifestations. The authors aimed to determine what proportion of ADPEAF families carries a mutation, to estimate the penetrance of identified mutations, and to identify clinical features that distinguish families with and withou...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2008
ISSN: 0003-9942
DOI: 10.1001/archneur.65.7.939