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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; Giordano, Lucio; Helbig, Katherine L; Heyne, Henrike O; Klepper, Joerg; Kluger, Gerhard J; Lederer, Damien; Lodi, Monica; Maier, Oliver; Merkenschlager, Andreas; Michelberger, Nina; Minetti, Carlo; Muhle, Hiltrud; Phalin, Judith; Ramsey, Keri; Romeo, Antonino; Schallner, Jens; Schanze, Ina; Shinawi, Marwan; Sleegers, Kristel; Sterbova, Katalin; Syrbe, Steffen; Traverso, Monica; Tzschach, Andreas; Uldall, Peter; Van Coster, Rudy; Verhelst, Helene; Viri, Maurizio; Winter, Susan; Wolff, Markus; Zenker, Martin.
Afiliación
  • Stamberger H; Authors' affiliations are listed at the end of the article.
  • Nikanorova M; Authors' affiliations are listed at the end of the article.
  • Willemsen MH; Authors' affiliations are listed at the end of the article.
  • Accorsi P; Authors' affiliations are listed at the end of the article.
  • Angriman M; Authors' affiliations are listed at the end of the article.
  • Baier H; Authors' affiliations are listed at the end of the article.
  • Benkel-Herrenbrueck I; Authors' affiliations are listed at the end of the article.
  • Benoit V; Authors' affiliations are listed at the end of the article.
  • Budetta M; Authors' affiliations are listed at the end of the article.
  • Caliebe A; Authors' affiliations are listed at the end of the article.
  • Cantalupo G; Authors' affiliations are listed at the end of the article.
  • Capovilla G; Authors' affiliations are listed at the end of the article.
  • Casara G; Authors' affiliations are listed at the end of the article.
  • Courage C; Authors' affiliations are listed at the end of the article.
  • Deprez M; Authors' affiliations are listed at the end of the article.
  • Destrée A; Authors' affiliations are listed at the end of the article.
  • Dilena R; Authors' affiliations are listed at the end of the article.
  • Erasmus CE; Authors' affiliations are listed at the end of the article.
  • Fannemel M; Authors' affiliations are listed at the end of the article.
  • Fjær R; Authors' affiliations are listed at the end of the article.
  • Giordano L; Authors' affiliations are listed at the end of the article.
  • Helbig KL; Authors' affiliations are listed at the end of the article.
  • Heyne HO; Authors' affiliations are listed at the end of the article.
  • Klepper J; Authors' affiliations are listed at the end of the article.
  • Kluger GJ; Authors' affiliations are listed at the end of the article.
  • Lederer D; Authors' affiliations are listed at the end of the article.
  • Lodi M; Authors' affiliations are listed at the end of the article.
  • Maier O; Authors' affiliations are listed at the end of the article.
  • Merkenschlager A; Authors' affiliations are listed at the end of the article.
  • Michelberger N; Authors' affiliations are listed at the end of the article.
  • Minetti C; Authors' affiliations are listed at the end of the article.
  • Muhle H; Authors' affiliations are listed at the end of the article.
  • Phalin J; Authors' affiliations are listed at the end of the article.
  • Ramsey K; Authors' affiliations are listed at the end of the article.
  • Romeo A; Authors' affiliations are listed at the end of the article.
  • Schallner J; Authors' affiliations are listed at the end of the article.
  • Schanze I; Authors' affiliations are listed at the end of the article.
  • Shinawi M; Authors' affiliations are listed at the end of the article.
  • Sleegers K; Authors' affiliations are listed at the end of the article.
  • Sterbova K; Authors' affiliations are listed at the end of the article.
  • Syrbe S; Authors' affiliations are listed at the end of the article.
  • Traverso M; Authors' affiliations are listed at the end of the article.
  • Tzschach A; Authors' affiliations are listed at the end of the article.
  • Uldall P; Authors' affiliations are listed at the end of the article.
  • Van Coster R; Authors' affiliations are listed at the end of the article.
  • Verhelst H; Authors' affiliations are listed at the end of the article.
  • Viri M; Authors' affiliations are listed at the end of the article.
  • Winter S; Authors' affiliations are listed at the end of the article.
  • Wolff M; Authors' affiliations are listed at the end of the article.
  • Zenker M; Authors' affiliations are listed at the end of the article.
Neurology ; 86(10): 954-62, 2016 Mar 08.
Article en En | MEDLINE | ID: mdl-26865513
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Epilepsia / Proteínas Munc18 / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Neurology Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Epilepsia / Proteínas Munc18 / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Neurology Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos