SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus (notice n° 246635)

détails MARC
000 -LEADER
fixed length control field 02709cam a2200397 4500500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250112070620.0
041 ## - LANGUAGE CODE
Language code of text/sound track or separate title fre
042 ## - AUTHENTICATION CODE
Authentication code dc
100 10 - MAIN ENTRY--PERSONAL NAME
Personal name Bisulli, Francesca
Relator term author
245 00 - TITLE STATEMENT
Title SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Date of publication, distribution, etc. 2019.<br/>
500 ## - GENERAL NOTE
General note 21
520 ## - SUMMARY, ETC.
Summary, etc. AimsEpilepsy with auditory features (EAF) is a focal epilepsy syndrome characterized by prominent auditory ictal manifestations. Two main genes, LGI1 and RELN, have been implicated in EAF, but the genetic aetiology remains unknown in half of families and most sporadic cases. We previously described a pathogenic SCN1A missense variant (p.Thr956Met) segregating in a large family in which the proband and her affected daughter had EAF, thus satisfying the minimum requirement for diagnosis of autosomal dominant EAF (ADEAF). However, the remaining eight affected family members had clinical manifestations typically found in families with genetic epilepsy with febrile seizures plus (GEFS+). We aimed to investigate the role/impact of SCN1A mutations in EAF.MethodsWe detailed the phenotype of this family and report on SCN1A screening in a cohort of 29 familial and 52 sporadic LGI1 variant-negative EAF patients.ResultsWe identified two possibly pathogenic missense variants (p.Tyr790Phe and p.Thr140Ile) in sporadic patients (3.8%) showing typical EAF and no antecedent febrile seizures. Both p.Thr956Met and p.Tyr790Phe were previously described in unrelated patients with epilepsies within the GEFS+ spectrum.ConclusionSCN1A mutations may be involved in EAF within the GEFS+ spectrum, however, the role of SCN1A in EAF without features that lead to a suspicion of underlying GEFS+ remains unclear and should be elucidated in future studies.
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element plus
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element lateral temporal epilepsy
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element ADLTE
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element genetics
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element GEFS
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element ADEAF
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Licchetta, Laura
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Baldassari, Sara
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Muccioli, Lorenzo
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Marconi, Caterina
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Cantalupo, Gaetano
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Myers, Candace
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Menghi, Veronica
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Minardi, Raffaella
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Caporali, Leonardo
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Marini, Carla
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Guerrini, Renzo
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Mefford, Heather C.
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Tinuper, Paolo
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Pippucci, Tommaso
Relator term author
786 0# - DATA SOURCE ENTRY
Note Epileptic Disorders | Vol 21 | 2 | 2019-02-01 | p. 185-191 | 1294-9361
856 41 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://shs.cairn.info/revue-epileptic-disorders-2019-2-page-185?lang=en">https://shs.cairn.info/revue-epileptic-disorders-2019-2-page-185?lang=en</a>

Pas d'exemplaire disponible.

PLUDOC

PLUDOC est la plateforme unique et centralisée de gestion des bibliothèques physiques et numériques de Guinée administré par le CEDUST. Elle est la plus grande base de données de ressources documentaires pour les Étudiants, Enseignants chercheurs et Chercheurs de Guinée.

Adresse

627 919 101/664 919 101

25 boulevard du commerce
Kaloum, Conakry, Guinée

Réseaux sociaux

Powered by Netsen Group @ 2025