SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

Author:

Bisulli Francesca12,Licchetta Laura12,Baldassari Sara1,Muccioli Lorenzo2,Marconi Caterina3,Cantalupo Gaetano4,Myers Candace5,Menghi Veronica2,Minardi Raffaella1,Caporali Leonardo1,Marini Carla6,Guerrini Renzo6,Mefford Heather C.5,Tinuper Paolo12,Pippucci Tommaso3

Affiliation:

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

Abstract

ABSTRACTAims. 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.

Publisher

Wiley

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3