en
Scientific article
English

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Published inEpilepsia, vol. 54, no. 5, p. e74-80
Publication date2013
Abstract

Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, including patients with early myoclonic encephalopathy (EME), Ohtahara syndrome, West syndrome, nonsyndromic EE with onset in the first year, and Lennox-Gastaut syndrome (LGS). We found six de novo mutations in six patients presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). No mutations were found in LGS or EME. Only two of four mutation carriers with neonatal seizures had Ohtahara syndrome. Epileptic spasms were present in five of six patients. One patient with normal magnetic resonance imaging (MRI) but focal seizures underwent epilepsy surgery and seizure frequency dropped drastically. Neuropathology showed a focal cortical dysplasia type 1a. There is a need for additional neuropathologic studies to explore whether STXBP1 mutations can lead to structural brain abnormalities.

Keywords
  • Brain/metabolism/pathology
  • Child
  • Child, Preschool
  • Electroencephalography
  • Female
  • Genetic Predisposition to Disease/genetics
  • Humans
  • Infant
  • Male
  • Munc18 Proteins/genetics
  • Mutation/genetics
  • Phosphopyruvate Hydratase/metabolism
  • Seizures/etiology/genetics/pathology/surgery
  • Spasms, Infantile/complications/genetics
  • Young Adult
Citation (ISO format)
WECKHUYSEN, Sarah et al. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. In: Epilepsia, 2013, vol. 54, n° 5, p. e74–80. doi: 10.1111/epi.12124
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
ISSN of the journal0013-9580
380views
0downloads

Technical informations

Creation03/12/2014 2:39:00 PM
First validation03/12/2014 2:39:00 PM
Update time03/14/2023 9:01:46 PM
Status update03/14/2023 9:01:45 PM
Last indexation01/16/2024 9:25:11 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack