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Title

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

Authors
Weckhuysen, Sarah
Holmgren, Philip
Hendrickx, Rik
Jansen, Anna C
Hasaerts, Daniele
Dielman, Charlotte
de Bellescize, Julitta
Boutry-Kryza, Nadia
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Published in Epilepsia. 2013, vol. 54, no. 5, p. e74-80
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/pathologyChildChild, PreschoolElectroencephalographyFemaleGenetic Predisposition to Disease/geneticsHumansInfantMaleMunc18 Proteins/geneticsMutation/geneticsPhosphopyruvate Hydratase/metabolismSeizures/etiology/genetics/pathology/surgerySpasms, Infantile/complications/geneticsYoung Adult
Identifiers
PMID: 23409955
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Research group Groupe Menache Starobinski Caroline (881)
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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. https://archive-ouverte.unige.ch/unige:34839

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Deposited on : 2014-03-19

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