Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases - Archive ouverte HAL Access content directly
Journal Articles Epilepsia Year : 2015

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

(1) , (2, 3) , (1) , (3, 4) , (3) , (3, 4) , (5) , (6, 7) , (8) , (8) , (9) , (10) , (11) , (12) , (13) , (14) , (15) , (16) , (16) , (17) , (18) , (19) , (19) , (20) , (3, 4, 21) , (4) , (4, 3) , (1, 3) , (3) , (1, 3)
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
Cécilia Altuzarra
  • Function : Author
  • PersonId : 886433
Marie Husson
  • Function : Author
  • PersonId : 886437

Abstract

Objective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome , with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. The aim of this study was to retrospectively describe clinical and electroencephalography (EEG) features associated with STXBP1-related epilepsies to orient molecular screening. Methods: We screened STXBP1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging (MRI) without any obvious structural abnormality. We reported on patients with a mutation and a microdeletion involving STXBP1 found using array comparative geno-mic hybridization (CGH). Results: We found a mutation of STXBP1 in 22 patients and included 2 additional patients with a deletion including STXBP1. In 22 of them, epilepsy onset was before 3 months of age. EEG at onset was abnormal in all patients, suppression-burst and multifocal abnormalities being the most common patterns. The rate of patients carrying a mutation ranged from 25% in Ohtahara syndrome to <5% in patients with an epilepsy beginning after 3 months of age. Epilepsy improved over time for most patients, with an evolution to West syndrome in half. Patients had moderate to severe developmental delay with normal head growth. Cerebellar syndrome with ataxic gait and/or tremor was present in 60%.
Fichier principal
Vignette du fichier
2015 STXBP1 DI MEGLI biffé.pdf (678.86 Ko) Télécharger le fichier
Origin : Files produced by the author(s)
Loading...

Dates and versions

hal-01664313 , version 1 (14-12-2017)

Identifiers

Cite

Chloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, et al.. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. Epilepsia, 2015, 56 (12), pp.1931-1940. ⟨10.1111/epi.13214⟩. ⟨hal-01664313⟩
314 View
468 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More