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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

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Weckhuysen, Sarah Holmgren, Philip Hendrickx, Rik Jansen, Anna C Hasaerts, Daniele Godfraind, Catherine [UCL] Van Rijckevorsel , Kenou [UCL] Suls, Arvid

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2013
Language Anglais
Journal information "Epilepsia" - Vol. 54, no.5, p. e74-e80 (2013)
Peer reviewed yes
Publisher Wiley-Blackwell Publishing, Inc. ((United States) Hoboken, NY)
issn 0013-9580
e-issn 1528-1167
Publication status Publié
Affiliations UCL - (SLuc) Service d'anatomie pathologique
UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire
MESH Subject Brain ; Munc18 Proteins ; Mutation ; Phosphopyruvate Hydratase ; Seizures ; Spasms, Infantile ; Young Adult ; Child ; Child, Preschool ; Electroencephalography ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Male
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Bibliographic reference Weckhuysen, Sarah ; Holmgren, Philip ; Hendrickx, Rik ; Jansen, Anna C ; Hasaerts, Daniele ; 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, Vol. 54, no.5, p. e74-e80 (2013)
Permanent URL http://hdl.handle.net/2078.1/156817