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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
- Source :
-
Epilepsia [Epilepsia] 2013 May; Vol. 54 (5), pp. e74-80. Date of Electronic Publication: 2013 Feb 14. - Publication Year :
- 2013
-
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.<br /> (Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.)
- Subjects :
- Brain metabolism
Brain pathology
Child
Child, Preschool
Electroencephalography
Female
Humans
Infant
Male
Phosphopyruvate Hydratase metabolism
Seizures etiology
Seizures pathology
Spasms, Infantile complications
Young Adult
Genetic Predisposition to Disease genetics
Munc18 Proteins genetics
Mutation genetics
Seizures genetics
Seizures surgery
Spasms, Infantile genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1528-1167
- Volume :
- 54
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Epilepsia
- Publication Type :
- Academic Journal
- Accession number :
- 23409955
- Full Text :
- https://doi.org/10.1111/epi.12124