SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus
| Autor: | Francesca, Bisulli, Laura, Licchetta, Sara, Baldassari, Lorenzo, Muccioli, Caterina, Marconi, Gaetano, Cantalupo, Candace, Myers, Veronica, Menghi, Raffaella, Minardi, Leonardo, Caporali, Carla, Marini, Renzo, Guerrini, Heather C, Mefford, Paolo, Tinuper, Tommaso, Pippucci |
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| Přispěvatelé: | Bisulli F., Licchetta L., Baldassari S., Muccioli L., Marconi C., Cantalupo G., Myers C., Menghi V., Minardi R., Caporali L., Marini C., Guerrini R., Mefford H.C., Tinuper P., Pippucci T. |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male ADEAF ADLTE GEFS plus genetics lateral temporal epilepsy Auditory Perceptual Disorders Mutation Missense GEFS plu Auditory Perceptual Disorder Middle Aged Seizures Febrile Pedigree NAV1.1 Voltage-Gated Sodium Channel Reelin Protein Humans Female Epilepsy Generalized Epilepsies Partial genetic Aged Human |
| Popis: | Aims. Epilepsy 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. Methods. We 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. Results. We 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. Conclusion. SCN1A 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. |
| Databáze: | OpenAIRE |
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