Research Topics
| C NobileSummaryAffiliation: University of Padova Country: Italy Publications
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Detail Information
Publications
LGI1 microdeletion in autosomal dominant lateral temporal epilepsyM Fanciulli
Porto Conte Ricerche, Alghero, Italy
Neurology 78:1299-303. 2012..To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE) negative to LGI1 exon sequencing test...
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsyCarlo Nobile
Istituto di Neuroscienze del CNR, Sezione di Padova, Dipartimento di Scienze Biomediche Sperimentali, Universita di Padova, Padova, Italy
Hum Mutat 30:530-6. 2009..The function of LGI1 is unclear. Several molecular mechanisms possibly leading to lateral temporal epilepsy are illustrated and briefly discussed...
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutationP Striano
CNR Istituto di Neuroscienze, Dipartimento di Scienze Biomediche Sperimentali, Universita di Padova, Viale G Colombo 3, 35121 Padova, Italy
Neurology 76:1173-6. 2011..Mutations in the LGI1 gene have been reported in up to 50% of ADLTE pedigrees. We report a family with temporal lobe epilepsy characterized by psychic symptoms associated with a novel LGI1 mutation...
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsyGiorgia Bovo
CNR Institute of Neurosciences, Section of Padua, Padova, Italy
Neurosci Lett 436:23-6. 2008....
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegiaC Nobile
CNR Centro di Studio per la Biologia e Fisiopatologia Muscolare, Dipartimento di Scienze Biomediche Sperimentali, Viale G Colombo 3, 35121 Padova, Italy
Gene 282:87-94. 2002..Mutation analysis of its coding sequence in families affected with temporal lobe epilepsy or spastic paraplegia linked to 10q24 do not support the involvement of this gene in either diseases...
The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brainSandra Furlan
CNR Istituto di Neuroscienze, Sezione di Padova, Dipartimento di Scienze Biomediche Sperimentali, Universita di Padova, Padua, Italy
J Neurochem 98:985-91. 2006....
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteinsErica Diani
CNR Institute of Neurosciences, Section of Padua, Padova, Italy
Epilepsy Res 80:1-8. 2008..Altogether, our results suggest that neither ADAM22 nor any of the three Kv1 channel genes are major causative genes for ADLTE...
