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STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy

(2016) NEUROLOGY. 86(10). p.954-962
Author
Organization
Abstract
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. Methods: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. Results: We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features. Conclusion: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1-E phenotype. STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy.
Keywords
INTELLECTUAL DISABILITY GENES, DE-NOVO MUTATIONS, INFANTILE SPASMS, OHTAHARA SYNDROME, DRAVET SYNDROME, SUPPRESSION-BURST, RETT-SYNDROME, ONSET, PHENOTYPE, FEATURES

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MLA
Stamberger, Hannah, Marina Nikanorova, Marjolein H Willemsen, et al. “STXBP1 Encephalopathy : a Neurodevelopmental Disorder Including Epilepsy.” NEUROLOGY 86.10 (2016): 954–962. Print.
APA
Stamberger, H., Nikanorova, M., Willemsen, M. H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., et al. (2016). STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy. NEUROLOGY, 86(10), 954–962.
Chicago author-date
Stamberger, Hannah, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, et al. 2016. “STXBP1 Encephalopathy : a Neurodevelopmental Disorder Including Epilepsy.” Neurology 86 (10): 954–962.
Chicago author-date (all authors)
Stamberger, Hannah, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrée, Robertino Dilena, Corrie E Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L Helbig, Henrike O Heyne, Joerg Klepper, Gerhard J Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Sterbova, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, HELENE VERHELST, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R Lemke, Rikke S Møller, and Sarah Weckhuysen. 2016. “STXBP1 Encephalopathy : a Neurodevelopmental Disorder Including Epilepsy.” Neurology 86 (10): 954–962.
Vancouver
1.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, et al. STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy. NEUROLOGY. 2016;86(10):954–62.
IEEE
[1]
H. Stamberger et al., “STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy,” NEUROLOGY, vol. 86, no. 10, pp. 954–962, 2016.
@article{8074098,
  abstract     = {Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients.
Methods: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients.
Results: We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features.
Conclusion: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1-E phenotype. STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy.},
  author       = {Stamberger, Hannah and Nikanorova, Marina and Willemsen, Marjolein H and Accorsi, Patrizia and Angriman, Marco and Baier, Hartmut and Benkel-Herrenbrueck, Ira and Benoit, Valérie and Budetta, Mauro and Caliebe, Almuth and Cantalupo, Gaetano and Capovilla, Giuseppe and Casara, Gianluca and Courage, Carolina and Deprez, Marie and Destrée, Anne and Dilena, Robertino and Erasmus, Corrie E and Fannemel, Madeleine and Fjær, Roar and Giordano, Lucio and Helbig, Katherine L and Heyne, Henrike O and Klepper, Joerg and Kluger, Gerhard J and Lederer, Damien and Lodi, Monica and Maier, Oliver and Merkenschlager, Andreas and Michelberger, Nina and Minetti, Carlo and Muhle, Hiltrud and Phalin, Judith and Ramsey, Keri and Romeo, Antonino and Schallner, Jens and Schanze, Ina and Shinawi, Marwan and Sleegers, Kristel and Sterbova, Katalin and Syrbe, Steffen and Traverso, Monica and Tzschach, Andreas and Uldall, Peter and Van Coster, Rudy and Verhelst, Helene and Viri, Maurizio and Winter, Susan and Wolff, Markus and Zenker, Martin and Zoccante, Leonardo and De Jonghe, Peter and Helbig, Ingo and Striano, Pasquale and Lemke, Johannes R and Møller, Rikke S and Weckhuysen, Sarah},
  issn         = {0028-3878},
  journal      = {NEUROLOGY},
  keywords     = {INTELLECTUAL DISABILITY GENES,DE-NOVO MUTATIONS,INFANTILE SPASMS,OHTAHARA SYNDROME,DRAVET SYNDROME,SUPPRESSION-BURST,RETT-SYNDROME,ONSET,PHENOTYPE,FEATURES},
  language     = {eng},
  number       = {10},
  pages        = {954--962},
  title        = {STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy},
  url          = {http://dx.doi.org/10.1212/WNL.0000000000002457},
  volume       = {86},
  year         = {2016},
}

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