John Libbey Eurotext

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus Volume 21, numéro 2, April 2019


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1 IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna
2 Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna
3 Medical Genetics Unit, Sant’Orsola-Malpighi University Hospital, Bologna
4 Child Neuropsychiatry Unit, University Hospital Verona
5 Division of Genetics, Department of Pediatrics, University of Washington, Seattle, WA, USA
6 Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital -University of Florence, Florence, Italy
* Correspondence: Francesca Bisulli IRCCS Istituto delle Scienze Neurologiche di Bologna, Department of Biomedical and Neuromotor Sciences Bologna, University of Bologna Via Altura 3, Bologna, Italy


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.