Drug resistant ADLTE and Recurrent partial status epilepticus with dysphasis features in a family with a novel LGI1 mutation: electroclinical, genetic, and EEG/fMRI findings. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Drug resistant ADLTE and Recurrent partial status epilepticus with dysphasis features in a family with a novel LGI1 mutation: electroclinical, genetic, and EEG/fMRI findings. (Articolo in rivista) (literal)

Anno

• 2009-01-01T00:00:00+01:00 (literal)

Alternative label

• C. Di Bonaventura, M. Carni, E. Diani, J. Fattouch, E.A.Vaudano, G. Egeo, P. Pantano, B. Maraviglia, L. Bozzao, M. Manfredi, M. Prencipe, A.T. Giallonardo, and C. Nobile (2009)
  Drug resistant ADLTE and Recurrent partial status epilepticus with dysphasis features in a family with a novel LGI1 mutation: electroclinical, genetic, and EEG/fMRI findings.
  in Epilepsia (Cph.)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• C. Di Bonaventura, M. Carni, E. Diani, J. Fattouch, E.A.Vaudano, G. Egeo, P. Pantano, B. Maraviglia, L. Bozzao, M. Manfredi, M. Prencipe, A.T. Giallonardo, and C. Nobile (literal)

Pagina inizio

• 2481 (literal)

Pagina fine

• 2486 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 50 (literal)

Rivista

• Epilepsia (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Neurological Sciences, and Department of Physics, University of Rome \"Sapienza\"; Enrico Fermi Center, Rome; Occupational and Safety Health Department - Medical Physics Unit, Bambino Gesù Paediatric Hospital, Rome; CNR-Institute of Neurosciences, section of Padua; 6 San Raffaele Pisana IRCCS, Rome; Neuromed Institute of Pozzilli, University of Rome \"Sapienza\" (literal)

Titolo

• Drug resistant ADLTE and Recurrent partial status epilepticus with dysphasis features in a family with a novel LGI1 mutation: electroclinical, genetic, and EEG/fMRI findings. (literal)

Abstract

• Purpose: We characterized a family with autosomal dominant lateral temporal epilepsy (ADLTE) whose proband presented uncommon electroclinical findings such as drug-resistant seizures and recurrent episodes of status epilepticus with dysphasic features. Methods: The electroclinical characteristics and LGI1 genotype were defined in the family. In the proband, the ictal pattern was documented during video-EEG monitoring and epileptic activity was mapped by EEG/fMRI. Results: The affected members who were studied had drug-resistant seizures. In the proband, seizures with predominant dysphasic features often occurred as partial status epilepticus. The video-EEG-documented ictal activity and fMRI activation clearly indicated the elective involvement of the left posterior lateral temporal cortex. Sequencing of LGI1 exons revealed a heterozygous c.367G>A mutation in exon 4, resulting in a Glu123Lys substitution in the protein sequence. Conclusions: The uncommon clinical pattern (high seizure frequency, drug-resistance) highlights the variability of the ADLTE phenotype and extends our knowledge of the clinical spectrum associated with LGI1 mutations. (literal)

Prodotto di

• Institute of neuroscience (IN) (Istituto)
• Biologia e Fisiopatologia Neuromuscolare (ME.P01.005.001) (Modulo)

Autore CNR

• CARLO NOBILE (Unità di personale interno)

Incoming links:

Autore CNR di

• CARLO NOBILE (Unità di personale interno)

Prodotto

• Institute of neuroscience (IN) (Istituto)
• Biologia e Fisiopatologia Neuromuscolare (ME.P01.005.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Epilepsia (Rivista)