221 results on '"Berten Ceulemans"'
Search Results
202. P185 Long-term cognitive and behavioural follow-up of patients with Dravet syndrome
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K. Van Hasselt, A. Laridon, A. Fonteyne, Helene Verhelst, I. Van Ingelghem, R. Van Coster, L. Dom, Filip Roelens, Lieven Lagae, and Berten Ceulemans
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Pediatrics ,medicine.medical_specialty ,Dravet syndrome ,business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,Cognition ,Neurology (clinical) ,General Medicine ,business ,medicine.disease ,Term (time) - Published
- 2009
203. O2-5 The clinical spectrum of STXBP1 mutations in early onset epileptic encephalpathy: between Ohtahara-syndrome and West syndrome?
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Liesbet Deprez, Albena Jordanova, Lieven Lagae, Antoon J.M. Janssen, Anne Holmgren, Sarah Weckhuysen, Kristien Verhaert, W. Van Paesschen, P. De Jonghe, and Berten Ceulemans
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Ohtahara syndrome ,medicine.medical_specialty ,History ,Family medicine ,Pediatrics, Perinatology and Child Health ,medicine ,West Syndrome ,Neurology (clinical) ,General Medicine ,University hospital ,medicine.disease ,Early onset - Abstract
O2-5 The clinical spectrum of STXBP1 mutations in early onset epileptic encephalpathy: between Ohtahara-syndrome and West syndrome? B. Ceulemans1,2,3 *, S. Weckhuysen4,5,6, K. Verhaert1, L. Deprez7,8,9, A. Holmgren7,8,9, A. Janssen10, W. Van Paesschen11, A. Jordanova4,5,12, L. Lagae3,13, P. De Jonghe4,5,14. 1Child Neurology, University Hospital of Antwerp, Antwerp, Belgium; 2Child Neurology, University of Antwerp, Antwerp, Belgium; 3Child Neurology, Epilepsy Centre Pulderbos, Pulderbos, Belgium; 4Neurology, University of Antwerp, Antwerp, Belgium; 5Neurology, Department of Molecular Genetics, VIB, Antwerp, Belgium; 6Neurology, Epilepsy Centre Kempenhaeghe, Oosterhout, The Netherlands; 7Biochemistry, University of Antwerp, Antwerp, Belgium; 8Biochemistry, Department of Molecular Genetics, VIB, Antwerp, Belgium; 9Biochemistry, Institute Born-Bunge, Antwerp, Belgium; 10Child Neurology, University Hospital of Brussels, Brussels, Belgium; 11Neurology, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium; 12Neurology, Institute Born-Bunge, Antwerp, Belgium; 13Child Neurology, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium; 14Neurology, University Hospital of Antwerp, Antwerp, Belgium
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- 2009
204. 054 Myoclonic astatic epilepsy: Two sibs in the same family
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Berten Ceulemans, I. De Volder, J. Vervisch, and M. Boel
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Pediatrics ,medicine.medical_specialty ,Myoclonic astatic epilepsy ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Neurology (clinical) ,General Medicine ,business ,medicine.disease - Published
- 1999
205. T.O.3 SNT-MC17/idebenone in Duchenne muscular dystrophy: long-term blinded controlled preclinical study in the mdx mouse followed by a 12 month double-blind randomized controlled trial in humans
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Michael Erb, Luc Mertens, Patrizia Barzaghi, Paul Herijgers, G. Buyse, Ulrike Schara, Erik Verbeken, M. den Hauwe, Daisy Thijs, Berten Ceulemans, G Van der Mieren, A. Van den Bergh, Nathalie Goemans, I. Courdier-Fruh, Jan D'hooge, Alejandro Jara, and I.J.M. Groot
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medicine.medical_specialty ,mdx mouse ,business.industry ,Duchenne muscular dystrophy ,Urology ,Cardiomyopathy ,medicine.disease ,law.invention ,Double blind ,Neurology ,Randomized controlled trial ,law ,Pediatrics, Perinatology and Child Health ,medicine ,Idebenone ,Neurology (clinical) ,business ,Genetics (clinical) ,medicine.drug - Published
- 2008
206. Two brothers with mental retardation discordant for the fragile-X syndrome
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Patrick Willems, Bart J. Van der Auwera, Jacques A. G. Lormans, L Vits, Paul Coucke, Jan E. Dumon, Bernadette Van Roy, and Berten Ceulemans
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Genetics ,Adult ,Male ,medicine.medical_specialty ,Chromosomal fragile site ,Cytogenetics ,Chromosome ,Chromosome Fragility ,DNA ,Biology ,medicine.disease ,Pedigree ,Fragile X syndrome ,Phenotype ,Chromosome analysis ,Fragile X Syndrome ,Intellectual Disability ,medicine ,Humans ,Restriction fragment length polymorphism ,Child ,DNA Probes ,Genetics (clinical) ,X chromosome ,Sex Chromosome Aberrations - Abstract
We describe two male sibs with mental retardation discordant for the fragile-X syndrome. In the younger sib, chromosome analysis under folate deprivation showed a fragile site at Xq27.3 in 12-46% of mitoses. In the older sib, however, repeated chromosome analyses (six different cultures with analysis of 50 mitoses each) under identical conditions could not detect any fragile-X site. Using DNA probes linked to the fragile-X gene, we found evidence that the two sibs inherited a different maternal X chromosome at Xq27.3. This excluded the presence of the fragile-X syndrome in the older sib with a probability of greater than 99%.
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- 1990
207. ESO05 Treatment and outcome of infantile spasms: a long-term multicenter study
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Berten Ceulemans, Marie-Cécile Nassogne, Marc D’Hooghe, Helene Verhelst, L. De Meirlier, Martine Foulon, Lieven Lagae, V. De Borghgrave, and P. Van Bogaert
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Pediatrics ,medicine.medical_specialty ,Multicenter study ,business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,Neurology (clinical) ,General Medicine ,business ,Outcome (game theory) ,Term (time) - Published
- 2007
208. HCP03 The development of severe refractory epilepsy during rehabilitation after near-drowning is highly correlated with a disastrous prognosis
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M. Moens, J. van Rhijn, Sandra Kenis, Berten Ceulemans, L. Schuddinck, and Marc Boel
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medicine.medical_specialty ,Rehabilitation ,business.industry ,medicine.medical_treatment ,General Medicine ,Near Drowning ,medicine.disease ,Pediatrics, Perinatology and Child Health ,Refractory epilepsy ,Medicine ,Neurology (clinical) ,Medical emergency ,business ,Intensive care medicine - Published
- 2007
209. ESO01 Early onset absence epilepsy: clinical parameters, EEG characteristics and genetic findings
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P. De Jonghe, A. Laridon, Berten Ceulemans, L Claes, and Kristien Verhaert
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medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,General Medicine ,Audiology ,Electroencephalography ,medicine.disease ,Epilepsy ,Pediatrics, Perinatology and Child Health ,medicine ,Neurology (clinical) ,Psychiatry ,business ,Early onset - Published
- 2007
210. 064 A 2-year-old child with status epilepticus after playing in the garden
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Berten Ceulemans, L. Geyskens, H. De Cauwer, and H. Van Bever
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Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,Neurology (clinical) ,General Medicine ,Status epilepticus ,medicine.symptom ,business - Published
- 1999
211. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) (Communicated by Ulf Landegren).
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Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, Jan Wauters, Berten Ceulemans, Jenneke Van Den Ende, Yolande Van Bever, and R. Frank Kooy
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INTELLECTUAL disabilities ,CYTOGENETICS ,TELOMERES ,PEOPLE with intellectual disabilities ,CHROMOSOMES - Abstract
Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopathic mental retardation for subtelomeric aberrations using multiplex ligation-dependent probe amplification (MLPA). This recently developed technique is based on PCR amplification of ligated probes hybridized to chromosome ends. Currently, 41 telomeres can be screened in just two multiplex reactions. Four subtelomeric rearrangements (5.3%) were detected in a group of 75 patients with mild to severe mental retardation in combination with dysmorphic features and/or a familial history of mental retardation: two terminal 1p deletions, a terminal 1q deletion, and a terminal 3p deletion. Deletions could be verified by FISH and marker analysis. In one case the MLPA indicated a terminal 21q deletion due to a 3-bp deletion at the site of the probe, giving a false-positive rate of 1.3%. This study demonstrates that MLPA is a fast and reliable screening method, potentially suitable for use in routine diagnostics. Hum Mutat 23:1721, 2004. © 2003 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]
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- 2004
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212. Steroids in intractable childhood epilepsy: Clinical experience and review of the literature
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Marc D’Hooghe, Helene Verhelst, Gunnar Buyse, An Jansen, Linda De Meirleir, Danielle Hasaerts, Rudy Van Coster, Kristl Vonck, Berten Ceulemans, Alfred Meurs, Paul Boon, Lieven Lagae, Pediatrics, and Public Health Care
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Male ,Pediatrics ,medicine.medical_specialty ,Neuroactive steroid ,Hydrocortisone ,Landau–Kleffner syndrome ,Drug Resistance ,Clinical Neurology ,Administration, Oral ,Childhood epilepsy ,Adrenocorticotropic hormone ,Injections, Intramuscular ,Dexamethasone ,Epilepsy ,Adrenocorticotropic Hormone ,Prednisone ,Recurrence ,medicine ,Humans ,Child ,Retrospective Studies ,business.industry ,Retrospective cohort study ,General Medicine ,medicine.disease ,Childhood ,ACTH ,Neurology ,Anesthesia ,Child, Preschool ,Anticonvulsants ,Female ,Steroids ,Neurology (clinical) ,business ,medicine.drug - Abstract
SummarySteroids and adrenocorticotrophic hormone (ACTH) have been used for the treatment of infantile spasms for several years. However, the use of steroids in the treatment of epilepsy beyond infantile spasms has been limited to only a few studies. We report the experience with steroids in 32 children with intractable epilepsy, not including West syndrome. In 47% there was a decrease in seizure frequency, 25% became seizure free, 11% had a seizure reduction of >50% and 11% had a seizure reduction of
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213. Arthrogryposis Multiplex Congenita Associated with Lissencephaly: A Case Report
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Berten Ceulemans, G Massa, Paul Casaer, and S Van Eldere
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musculoskeletal diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,Lissencephaly syndrome ,Pathology ,medicine.medical_specialty ,Microcephaly ,Chromosomes, Human, Pair 21 ,Lissencephaly ,Type I lissencephaly ,Humans ,Medicine ,skin and connective tissue diseases ,Muscle contracture ,Arthrogryposis ,Arthrogryposis multiplex congenita ,Electromyography ,business.industry ,Brain ,General Medicine ,medicine.disease ,Tomography x ray computed ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,Chromosome Deletion ,medicine.symptom ,Tomography, X-Ray Computed ,business - Abstract
A child with arthrogryposis multiplex congenita and microcephaly is described. Cranial CT-scan and MRI showed abnormalities consistent with type I lissencephaly. The lissencephaly seems to be the primary cause of the congential contractures. Lissencephaly associated with arthrogryposis multiplex congenita has to be considered as a special kind of lissencephaly syndrome.
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- 1988
214. Cerebellar cognitive-affective syndrome without mental retardation in two patients with Gillespie syndrome
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Peter Marien, Raf Brouns, Engelborghs, S., Peggy Wackenier, Berten Ceulemans, Deyn, P. P., Centre for Linguistics, Vrije Universiteit Brussel, Clinical sciences, and Neuroprotection & Neuromodulation
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gillespie syndrome - Abstract
see medline
215. The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees
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Berten Ceulemans, Stephan Claes, Koenraad Devriendt, Peter Raeymaekers, Lieven Lagae, Paul Casaer, Jean-Pierre Fryns, L. Dom, and Jean-Jacques Cassiman
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Male ,X Chromosome ,Genotype ,Genetic Linkage ,Pedigree chart ,Neuropathology ,Epilepsy ,Genetic linkage ,medicine ,Humans ,Sex Chromosome Aberrations ,X chromosome ,Genetics ,business.industry ,Chromosomes, Human, Pair 11 ,Chromosome Mapping ,Infant ,West Syndrome ,medicine.disease ,Pedigree ,Neurology ,Genetic marker ,Child, Preschool ,Neurology (clinical) ,business ,Spasms, Infantile - Abstract
We report 2 families with X-linked infantile spasms syndrome (X-linked West syndrome). Data from clinical examination, biochemical analysis, neuroimaging, and neuropathology are discussed. In these families, genetic linkage analysis was able to locate the disease gene to the distal part of the short arm of the X chromosome, between Xpter and Xp11.4. This is the first report of linkage with genetic markers in this disorder. Although most cases are sporadic, further unraveling of the genetic background of the familial cases might greatly improve our understanding of infantile spasms.
216. First line management of prolonged convulsive seizures in children and adults: good practice points
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Katrien Smets, Bernard Dan, Anna Jansen, Benjamin Legros, Helene Verhelst, Michel Ossemann, Sylvie De Raedt, Paul Boon, Berten Ceulemans, Patricia Leroy, Francoise Delmelle, Lieven Lagae, Liesbeth De Waele, Patrick Van De Voorde, Public Health Care, Neurogenetics, Neurology, Clinical sciences, and Neuroprotection & Neuromodulation
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Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Neurology ,Status epilepticus ,Emergency treatment ,Epilepsy ,Benzodiazepines ,Seizures ,Intervention (counseling) ,medicine ,Medicine and Health Sciences ,Anti-epileptic drugs ,Humans ,Psychiatry ,Good practice ,Child ,business.industry ,STATUS EPILEPTICUS ,General Medicine ,MIDAZOLAM ,medicine.disease ,Convulsive Seizures ,Prolonged ,ONSET ,Midazolam ,epilepsy ,Anticonvulsants ,Female ,DIAZEPAM ,Neurology (clinical) ,Human medicine ,medicine.symptom ,business ,Diazepam ,medicine.drug - Abstract
Over the past decades, it has become clear that the most efficient way to prevent status epilepticus is to stop the seizure as fast as possible, and early treatment of prolonged convulsive seizures has become an integral part of the overall treatment strategy in epilepsy. Benzodiazepines are the first choice drugs to be used as emergency medication. This treatment in the early phases of a seizure often implies a 'pre-medical' setting before intervention of medically trained persons. In this paper, we propose "good practice points" for first line management of prolonged convulsive seizures in children and adults in a 'pre-medical' setting.
217. STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a
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Kathinka W. E. M. van Hooren, Nicola Hellen, Dorothee van Breevoort, Sarah Weckhuysen, Jeroen Eikenboom, Jan Voorberg, Matthew J. Hannah, Karine M. Valentijn, Ambrosius P. Snijders, Peter De Jonghe, Mar Fernandez-Borja, Tom Carter, Berten Ceulemans, Ruben Bierings, Landsteiner Laboratory, Amsterdam Cardiovascular Sciences, and Experimental Vascular Medicine
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endocrine system ,Immunology ,Vesicular Transport Proteins ,Syntaxin 1 ,Endogeny ,Biochemistry ,Exocytosis ,rab27 GTP-Binding Proteins ,chemistry.chemical_compound ,Munc18 Proteins ,Von Willebrand factor ,Weibel–Palade body ,Human Umbilical Vein Endothelial Cells ,Gene silencing ,Humans ,Secretion ,Protein Interaction Maps ,RNA, Small Interfering ,Cells, Cultured ,biology ,Weibel-Palade Bodies ,Effector ,Qa-SNARE Proteins ,Endothelial Cells ,Cell Biology ,Hematology ,3. Good health ,Cell biology ,HEK293 Cells ,chemistry ,rab GTP-Binding Proteins ,biology.protein ,Cancer research ,RNA Interference ,Human medicine ,Histamine - Abstract
Vascular endothelial cells contain unique rod-shaped secretory organelles, called Weibel-Palade bodies (WPBs), which contain the hemostatic protein von Willebrand factor (VWF) and a cocktail of angiogenic and inflammatory mediators. We have shown that the Rab27A effector synaptotagmin-like protein 4-a (Slp4-a) plays a critical role in regulating hormone-evoked WPB exocytosis. Using a nonbiased proteomic screen for targets for Slp4-a, we now identify syntaxin-binding protein 1 (STXBP1) and syntaxin-2 and -3 as endogenous Slp4-a binding partners in endothelial cells. Coimmunoprecipitations showed that STXBP1 interacts with syntaxin-2 and -3, but not with syntaxin-4. Small interfering RNA-mediated silencing of STXBP1 expression impaired histamine- and forskolin-induced VWF secretion. To further substantiate the role of STXBP1, we isolated blood outgrowth endothelial cells (BOECs) from an early infantile epileptic encephalopathy type 4 (EIEE4) patient carrying a de novo mutation in STXBP1. STXBP1-haploinsufficient EIEE4 BOECs contained similar numbers of morphologically normal WPBs compared with control BOECs of healthy donors; however, EIEE4 BOECs displayed significantly impaired histamine- and forskolin-stimulated VWF secretion. Based on these findings, we propose that the Rab27A-Slp4-a complex on WPB promotes exocytosis through an interaction with STXBP1, thereby controlling the release of vaso-active substances in the vasculature.
218. Using Spatio-Temporal Interest Points (STIP) for myoclonic jerk detection in nocturnal video
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Kris Cuppens, Sabine Van Huffel, Bart Vanrumste, Anouk Van de Vel, Chih-Wei Chen, Berten Ceulemans, Kevin Bing-Yung Wong, Hamid Aghajan, Lieven Lagae, and Tinne Tuytelaars
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Male ,Myoclonus ,Remote patient monitoring ,Polysomnography ,Feature extraction ,Myoclonic Jerk ,Video Recording ,Monitoring, Ambulatory ,Epilepsies, Myoclonic ,Nocturnal ,Sensitivity and Specificity ,Pattern Recognition, Automated ,Imaging, Three-Dimensional ,Photography ,Humans ,Computer vision ,Child ,business.industry ,Reproducibility of Results ,Neurophysiology ,Term (time) ,Support vector machine ,Child, Preschool ,Pattern recognition (psychology) ,Female ,Artificial intelligence ,Anatomic Landmarks ,Psychology ,business - Abstract
In this study we introduce a method for detecting myoclonic jerks during the night with video. Using video instead of the traditional method of using EEG-electrodes, permits patients to sleep without any attached sensors. This improves the comfort during sleep and it makes long term home monitoring possible. The algorithm for the detection of the seizures is based on spatio-temporal interest points (STIPs), proposed by Ivan Laptev, which is the state-of-the-art in action recognition [8].We applied this algorithm on a group of patients suffering from myoclonic jerks. With an optimal parameter setting this resulted in a sensitivity of over 75% and a PPV of over 85%, on the patients' combined data.
219. Clinical spectrum of early onset epileptic encephalopathies associated with STXBP1 mutations
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Weckhuysen, S., Liesbet Deprez, Philippe Holmgren, Arvid Suls, Tine Van Dyck, Goossens, D., Jurgen Del-Favero, Anna Jansen, Kristien Verhaert, Lieven Lagae, Jordanova, A., Vancoster, R., Yendle, S., Samuel Berkovic, Ingrid Scheffer, Berten Ceulemans, Jonghe, P., and Public Health Care
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Infantile spasms ,neonatal seizures ,epilepsy ,genetics ,mental retardation - Abstract
OBJECTIVES: Heterozygous mutations in STXBP1, encoding the syntaxin binding protein 1, have recently been identified in Ohtahara syndrome, an epileptic encephalopathy with very early onset. In order to explore the phenotypic spectrum associated with STXBP1 mutations, we analyzed a cohort of patients with unexplained early-onset epileptic encephalopathies. METHODS: We collected and clinically characterized 106 patients with early-onset epileptic encephalopathies. Mutation analysis of the STXBP1 gene was done using sequence analysis of the exon and intron-exon boundaries and multiplex amplification quantification to detect copy number variations. RESULTS: We identified 4 truncating mutations and 2 microdeletions partially affecting STXBP1 in 6 of the 106 patients. All mutations are predicted to abolish STXBP1 function and 5 mutations were proven to occur de novo. None of the mutation-carrying patients had Ohtahara syndrome. One patient was diagnosed with West syndrome at disease onset, while the initial phenotype of 5 further patients did not fit into a specific recognized epilepsy syndrome. Three of these patients later evolved to West syndrome. All patients had severe to profound mental retardation, and ataxia or dyskinetic movements were present in 5 patients. CONCLUSION: This study shows that mutations in STXBP1 are not limited to patients with Ohtahara syndrome, but are also present in 10% (5/49) of patients with an early-onset epileptic encephalopathy that does not fit into either Ohtahara or West syndrome and rarely in typical West syndrome. STXBP1 mutational analysis should be considered in the diagnostic evaluation of this challenging group of patients.
220. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
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Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry P.H. Kremer, Suzanna G.M. Frints, Wendy A.G. van Zelst-Stams, Paula Byrne, Susanne Otto, Anders O.H. Nygren, Jonathan Baets, Katrien Smets, Berten Ceulemans, Bernard Dan, Narasimhan Nagan, Jan Kassubek, Sven Klimpe, Thomas Klopstock, and Henning Stolze
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RECEPTOR antibodies ,GENETIC mutation ,PARAPLEGIA ,BINDING sites - Abstract
Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploinsufficiency. Interestingly, we identified two disease associated variations in the 3′-UTR of REEP1 that fell into highly conserved micro RNA binding sites. Copy number variation analysis in a subset of 133 HSP index patients revealed a large duplication of REEP1 that involved exons 2–7 in an Irish family. Clinically most SPG31 patients present with a pure spastic paraplegia; rare complicating features were restricted to symptoms or signs of peripheral nerve involvement. Interestingly, the distribution of age at onset suggested a bimodal pattern with the appearance of initial symptoms of disease either before the age of 20 years or after the age of 30 years. The overall mutation rate in our clinically heterogeneous sample was 3.0%; however, in the sub-sample of pure HSP REEP1 mutations accounted for 8.2% of all patients. These results firmly establish REEP1 as a relatively frequent autosomal dominant HSP gene for which genetic testing is warranted. We also establish haploinsufficiency as the main molecular genetic mechanism in SPG31, which should initiate and guide functional studies on REEP1 with a focus on loss-of-function mechanisms. Our results should be valid as a reference for mutation frequency, spectrum of REEP1 mutations, and clinical phenotypes associated with SPG31. [ABSTRACT FROM AUTHOR]
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- 2008
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221. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
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Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, and Cilio MR
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- Humans, Apnea, Bradycardia, Seizures genetics, Phenotype, Muscle Hypertonia, Nuclear Proteins genetics, Myoclonus, Hyperekplexia, Brain Diseases diagnosis, Brain Diseases genetics
- Abstract
Background and Objectives: BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis., Methods: Through a multinational collaborative, we studied a cohort of neonates with encephalopathy associated with biallelic pathogenic variants in BRAT1 for whom detailed clinical, neurophysiologic, and neuroimaging information was available from the onset of symptoms. Neuropathologic changes were also analyzed., Results: We included 19 neonates. Most neonates were born at term (16/19) from nonconsanguineous parents. 15/19 (79%) were admitted soon after birth to a neonatal intensive care unit, exhibiting multifocal myoclonus, both spontaneous and exacerbated by stimulation. 7/19 (37%) had arthrogryposis at birth, and all except 1 progressively developed hypertonia in the first week of life. Multifocal myoclonus, which was present in all but 1 infant, was the most prominent manifestation and did not show any EEG correlate in 16/19 (84%). Video-EEG at onset was unremarkable in 14/19 (74%) infants, and 6 (33%) had initially been misdiagnosed with hyperekplexia. Multifocal seizures were observed at a median age of 14 days (range: 1-29). During the first months of life, all infants developed progressive encephalopathy, acquired microcephaly, prolonged bouts of apnea, and bradycardia, leading to cardiac arrest and death at a median age of 3.5 months (range: 20 days to 30 months). Only 7 infants (37%) received a definite diagnosis before death, at a median age of 34 days (range: 25-126), and almost two-thirds (12/19, 63%) were diagnosed 8 days to 12 years postmortem (median: 6.5 years). Neuropathology examination, performed in 3 patients, revealed severely delayed myelination and diffuse astrogliosis, sparing the upper cortical layers., Discussion: BRAT1 encephalopathy is a neonatal-onset, rapidly progressive neurologic disorder. Neonates are often misdiagnosed as having hyperekplexia, and many die undiagnosed. The key phenotypic features are multifocal myoclonus, an organized EEG, progressive, persistent, and diffuse hypertonia, and an evolution into refractory multifocal seizures, prolonged bouts of apnea, bradycardia, and early death. Early recognition of BRAT1 encephalopathy allows for prompt workup, appropriate management, and genetic counseling., (© 2023 American Academy of Neurology.)
- Published
- 2023
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