Carlo Nobile

Roberto Michelucci14
Pasquale Striano7
Francesca Bisulli6
14Roberto Michelucci
7Pasquale Striano
6Francesca Bisulli
6Salvatore Striano
6Simona Binelli
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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(More)
  • José M Morante-Redolat, Ana Gorostidi-Pagola, Salomé Piquer-Sirerol, Amets Sáenz, Juan J Poza, Juan Galán +21 others
  • 2002
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(More)
Mutations in the LGI1 gene are linked to autosomal dominant lateral temporal epilepsy (ADTLE) in about half of the families tested, suggesting that ADLTE is genetically heterogeneous. Recently, the Lgi1 protein has been found associated with different protein complexes and two distinct molecular mechanisms possibly underlying ADLTE have been hypothesized:(More)
Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic epilepsy syndrome clinically characterized by focal seizures with prominent auditory symptoms. ADLTE is genetically heterogeneous, and mutations in LGI1 account for fewer than 50% of affected families. Here, we report the identification of causal mutations in reelin (RELN) in seven(More)
Lateral temporal epilepsies are still a poorly studied group of conditions, covering lesional and nonlesional cases. Within nonlesional cases, autosomal dominant lateral temporal epilepsy (ADLTE) is a well-defined, albeit rare, condition characterized by onset in adolescence or early adulthood of lateral temporal seizures with prominent auditory auras(More)
Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies,(More)
  • Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos +7 others
  • 2011
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may contribute to the clinical course of Lafora disease patients with EPM2A or EPM2B mutations. We(More)
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(More)