STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Hannah Stamberger; 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 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; Sarah Weckhuysen

doi:10.1212/WNL.0000000000002457

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Hannah Stamberger
, 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 Kluger (Co-Autor/-in), 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, Sarah Weckhuysen

Publikation: Beitrag in Fachzeitschrift › Übersichtsarbeit › Begutachtung

258 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	954-962
Fachzeitschrift	NEUROLOGY
Jahrgang	86
Ausgabenummer	10
DOIs	https://doi.org/10.1212/WNL.0000000000002457
Publikationsstatus	Veröffentlicht - 2016

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10.1212/WNL.0000000000002457

Dieses zitieren

Stamberger, H., Nikanorova, M., Willemsen, M. H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., Benoit, V., Budetta, M., Caliebe, A., Cantalupo, G., Capovilla, G., Casara, G., Courage, C., Deprez, M., Destrée, A., Dilena, R., Erasmus, C. E., Fannemel, M., ... Weckhuysen, S. (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. NEUROLOGY , 86(10), 954-962. https://doi.org/10.1212/WNL.0000000000002457

Stamberger, Hannah ; Nikanorova, Marina ; Willemsen, Marjolein H et al. / STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. in: NEUROLOGY 2016 ; Jahrgang 86, Nr. 10. S. 954-962.

@article{9e3eeb8767884b7ca04e7ab21806882f,

title = "STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.",

keywords = "DE-NOVO MUTATIONS, INTELLECTUAL DISABILITY GENES, INFANTILE SPASMS, OHTAHARA SYNDROME, DRAVET SYNDROME, SUPPRESSION-BURST, RETT-SYNDROME, ONSET, PHENOTYPE, FEATURES",

author = "Hannah Stamberger and Marina Nikanorova and Willemsen, \{Marjolein H\} and Patrizia Accorsi and Marco Angriman and Hartmut Baier and Ira Benkel-Herrenbrueck and Val{\'e}rie Benoit and Mauro Budetta and Almuth Caliebe and Gaetano Cantalupo and Giuseppe Capovilla and Gianluca Casara and Carolina Courage and Marie Deprez and Anne Destr{\'e}e and Robertino Dilena and Erasmus, \{Corrie E\} and Madeleine Fannemel and Roar Fj{\ae}r and Lucio Giordano and Helbig, \{Katherine L\} and Heyne, \{Henrike O\} and Joerg Klepper and Gerhard Kluger and Damien Lederer and Monica Lodi and Oliver Maier and Andreas Merkenschlager and Nina Michelberger and Carlo Minetti and Hiltrud Muhle and Judith Phalin and Keri Ramsey and Antonino Romeo and Jens Schallner and Ina Schanze and Marwan Shinawi and Kristel Sleegers and Katalin Sterbova and Steffen Syrbe and Monica Traverso and Andreas Tzschach and Peter Uldall and \{Van Coster\}, Rudy and Helene Verhelst and Maurizio Viri and Susan Winter and Markus Wolff and Martin Zenker and Leonardo Zoccante and \{De Jonghe\}, Peter and Ingo Helbig and Pasquale Striano and Lemke, \{Johannes R\} and M{\o}ller, \{Rikke S\} and Sarah Weckhuysen",

note = "Kluger: Schon Klin Vogtareuth, Epilepsy Ctr Children *** Adolescents, Neuropediat Clin *** Clin Neurorehabilitat, Vogtareuth, Germany; PMU Salzburg, Salzburg, Austria",

year = "2016",

doi = "10.1212/WNL.0000000000002457",

language = "English",

volume = "86",

pages = "954--962",

journal = "NEUROLOGY ",

issn = "0028-3878",

publisher = "Lippincott Williams \& Wilkins ",

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}

Stamberger, H, Nikanorova, M, Willemsen, MH, Accorsi, P, Angriman, M, Baier, H, Benkel-Herrenbrueck, I, Benoit, V, Budetta, M, Caliebe, A, Cantalupo, G, Capovilla, G, Casara, G, Courage, C, Deprez, M, Destrée, A, Dilena, R, Erasmus, CE, Fannemel, M, Fjær, R, Giordano, L, Helbig, KL, Heyne, HO, Klepper, J, Kluger, G, Lederer, D, Lodi, M, Maier, O, Merkenschlager, A, Michelberger, N, Minetti, C, Muhle, H, Phalin, J, Ramsey, K, Romeo, A, Schallner, J, Schanze, I, Shinawi, M, Sleegers, K, Sterbova, K, Syrbe, S, Traverso, M, Tzschach, A, Uldall, P, Van Coster, R, Verhelst, H, Viri, M, Winter, S, Wolff, M, Zenker, M, Zoccante, L, De Jonghe, P, Helbig, I, Striano, P, Lemke, JR, Møller, RS & Weckhuysen, S 2016, 'STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.', NEUROLOGY , Jg. 86, Nr. 10, S. 954-962. https://doi.org/10.1212/WNL.0000000000002457

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. / Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H et al.
in: NEUROLOGY , Jahrgang 86, Nr. 10, 2016, S. 954-962.

Publikation: Beitrag in Fachzeitschrift › Übersichtsarbeit › Begutachtung

TY - JOUR

T1 - STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

AU - Stamberger, Hannah

AU - Nikanorova, Marina

AU - Willemsen, Marjolein H

AU - Accorsi, Patrizia

AU - Angriman, Marco

AU - Baier, Hartmut

AU - Benkel-Herrenbrueck, Ira

AU - Benoit, Valérie

AU - Budetta, Mauro

AU - Caliebe, Almuth

AU - Cantalupo, Gaetano

AU - Capovilla, Giuseppe

AU - Casara, Gianluca

AU - Courage, Carolina

AU - Deprez, Marie

AU - Destrée, Anne

AU - Dilena, Robertino

AU - Erasmus, Corrie E

AU - Fannemel, Madeleine

AU - Fjær, Roar

AU - Giordano, Lucio

AU - Helbig, Katherine L

AU - Heyne, Henrike O

AU - Klepper, Joerg

AU - Kluger, Gerhard

AU - Lederer, Damien

AU - Lodi, Monica

AU - Maier, Oliver

AU - Merkenschlager, Andreas

AU - Michelberger, Nina

AU - Minetti, Carlo

AU - Muhle, Hiltrud

AU - Phalin, Judith

AU - Ramsey, Keri

AU - Romeo, Antonino

AU - Schallner, Jens

AU - Schanze, Ina

AU - Shinawi, Marwan

AU - Sleegers, Kristel

AU - Sterbova, Katalin

AU - Syrbe, Steffen

AU - Traverso, Monica

AU - Tzschach, Andreas

AU - Uldall, Peter

AU - Van Coster, Rudy

AU - Verhelst, Helene

AU - Viri, Maurizio

AU - Winter, Susan

AU - Wolff, Markus

AU - Zenker, Martin

AU - Zoccante, Leonardo

AU - De Jonghe, Peter

AU - Helbig, Ingo

AU - Striano, Pasquale

AU - Lemke, Johannes R

AU - Møller, Rikke S

AU - Weckhuysen, Sarah

N1 - Kluger: Schon Klin Vogtareuth, Epilepsy Ctr Children *** Adolescents, Neuropediat Clin *** Clin Neurorehabilitat, Vogtareuth, Germany; PMU Salzburg, Salzburg, Austria

PY - 2016

Y1 - 2016

KW - DE-NOVO MUTATIONS

KW - INTELLECTUAL DISABILITY GENES

KW - INFANTILE SPASMS

KW - OHTAHARA SYNDROME

KW - DRAVET SYNDROME

KW - SUPPRESSION-BURST

KW - RETT-SYNDROME

KW - ONSET

KW - PHENOTYPE

KW - FEATURES

U2 - 10.1212/WNL.0000000000002457

DO - 10.1212/WNL.0000000000002457

M3 - Review article

C2 - 26865513

SN - 0028-3878

VL - 86

SP - 954

EP - 962

JO - NEUROLOGY

JF - NEUROLOGY

IS - 10

ER -

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):954-962. doi: 10.1212/WNL.0000000000002457