Journal Articles Annals of Neurology Year : 2024

Electro‐Clinical Features and Functional Connectivity Analysis in SYN1‐Related Epilepsy

Philippe Casenave
  • Function : Author
Laurence Chaton
  • Function : Author
Maxime Chochoi
  • Function : Author
Christel Depienne
  • Function : Author
Vincent Desportes
  • Function : Author
Jessie de Ridder
  • Function : Author
Vera Dinkelacker
  • Function : Author
Elena Gardella
Gerhard J Kluger
  • Function : Author
Julien Jung
Martine Lemesle Martin
  • Function : Author
Maria Margherita Mancardi
  • Function : Author
Markus Mueller
  • Function : Author
Anne‐lise Poulat
  • Function : Author
Konrad Platzer
Agathe Roubertie
Marijn F Stokman
  • Function : Author
Anneke T Vulto‐van Silfhout
  • Function : Author
Gert Wiegand
  • Function : Author
Laure Mazzola
  • Function : Author
  • PersonId : 1487158

Abstract

Objective: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern. Methods: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants. Specifically, we analyzed interictal EEG data for all patients, and electro-clinical data from 10 epileptic seizures in 5 patients, using prolonged video-EEG monitoring recordings. Inter-ictal EEG
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hal-04876545 , version 1 (09-01-2025)

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Vincent Moya Quiros, Ahmed Adham, Philippe Convers, Gaetan Lesca, François Mauguiere, et al.. Electro‐Clinical Features and Functional Connectivity Analysis in SYN1‐Related Epilepsy. Annals of Neurology, 2024, 97 (1), pp.34 - 50. ⟨10.1002/ana.27063⟩. ⟨hal-04876545⟩
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