title: Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
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.
authors: Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.
authors: Sarah
authors: S
authors: Weckhuysen
authors: Philip
authors: P
authors: Holmgren
authors: Rik
authors: R
authors: Hendrickx
authors: Anna C
authors: AC
authors: Jansen
authors: Daniele
authors: D
authors: Hasaerts
authors: Charlotte
authors: C
authors: Dielman
authors: Julitta
authors: J
authors: de Bellescize
authors: Nadia
authors: N
authors: Boutry-Kryza
authors: Gaetan
authors: G
authors: Lesca
authors: Sarah
authors: S
authors: Von Spiczak
authors: Ingo
authors: I
authors: Helbig
authors: Deepak
authors: D
authors: Gill
authors: Simone
authors: S
authors: Yendle
authors: Rikke S
authors: RS
authors: Møller
authors: Laura
authors: L
authors: Klitten
authors: Christian
authors: C
authors: Korff
authors: Catherine
authors: C
authors: Godfraind
authors: Kenou
authors: K
authors: Van Rijckevorsel
authors: Peter
authors: P
authors: De Jonghe
authors: Helle
authors: H
authors: Hjalgrim
authors: Ingrid E
authors: IE
authors: Scheffer
authors: Arvid
authors: A
authors: Suls
mesh_terms: D001921:Brain / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010751:Phosphopyruvate Hydratase / Q000378:metabolism; D012640:Seizures / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics*; D055815:Young Adult
chemical_list: D051938:Munc18 Proteins; C497937:STXBP1 protein, human; D010751:Phosphopyruvate Hydratase