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Andrea Bevot
Researcher at Boston Children's Hospital
Publications - 45
Citations - 1204
Andrea Bevot is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 13, co-authored 34 publications receiving 921 citations. Previous affiliations of Andrea Bevot include University of Tübingen & University of Southern Denmark.
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Journal ArticleDOI
The phenotypic spectrum of SCN8A encephalopathy
Jan Larsen,Gemma L. Carvill,Elena Gardella,Gerhard Kluger,G. Schmiedel,Nina Barišić,Christel Depienne,Eva H. Brilstra,Yuan Mang,Jens Erik Klint Nielsen,Martin Kirkpatrick,David Goudie,Rebecca Goldman,Johanna A. Jähn,Birgit Jepsen,Deepak Gill,Miriam Döcker,Saskia Biskup,Jacinta M McMahon,Bobby P. C. Koeleman,Mandy Lyn O. Harris,Kees P.J. Braun,Carolien G.F. de Kovel,Carla Marini,Nicola Specchio,Tania Djémié,Sarah Weckhuysen,Niels Tommerup,Mónica Troncoso,L. Troncoso,Andrea Bevot,Markus Wolff,Helle Hjalgrim,Renzo Guerrini,Ingrid E. Scheffer,Heather C Mefford,Rikke S. Møller +36 more
TL;DR: SCN8A encephalopathy presents in infancy with multiple seizure types including focal seizures and spasms in some cases, and outcome is often poor and includes hypotonia and movement disorders.
Journal ArticleDOI
Extending the KCNQ2 encephalopathy spectrum Clinical and neuroimaging findings in 17 patients
Sarah Weckhuysen,Ivanovic,Rik Hendrickx,Van, Coster, R,H. Hjalgrim,Rikke S. Møller,S Gronborg,An-Sofie Schoonjans,Berten Ceulemans,Sinéad Heavin,Christin Eltze,Rita Horvath,G Casara,Tiziana Pisano,Lucio Giordano,Kevin Rostasy,E Haberlandt,Beate Albrecht,Andrea Bevot,I. Benkel,S Syrbe,B Sheidley,Renzo Guerrini,Annapurna Poduri,Lemke,Simone Mandelstam,Ingrid E. Scheffer,Marco Angriman,Pasquale Striano,Carla Marini,Arvid Suls,De Jonghe P +31 more
TL;DR: Based on seizure frequency at onset and cognitive outcome, patients present with a wide spectrum of severity and, although rare, infantile epilepsy onset is possible, the spectrum of KCNQ2 encephalopathy is expanded to patients with moderate intellectual disability and/or infrequent seizures at onset.
Journal ArticleDOI
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
Lutz Garbes,Kyung Ho Kim,Angelika Rieß,Heike Hoyer-Kuhn,Filippo Beleggia,Andrea Bevot,Mi Jeong Kim,Yang Hoon Huh,Hee Seok Kweon,Ravi Savarirayan,David J. Amor,Purvi M. Kakadia,Tobias Lindig,Karl Oliver Kagan,Jutta Becker,Simeon A. Boyadjiev,Bernd Wollnik,Oliver Semler,Stefan K. Bohlander,Jinoh Kim,Christian Netzer +20 more
TL;DR: Electron and immunofluorescence microscopy of skin fibroblasts of this individual revealed that ER export of procollagen was inefficient and that ER tubules were dilated, faithfully reproducing the cellular phenotype of individuals with cranio-lentico-sutural dysplasia (CLSD).
Journal ArticleDOI
Long-term outcome in preterm children with human cytomegalovirus infection transmitted via breast milk.
Andrea Bevot,Klaus Hamprecht,Ingeborg Krägeloh-Mann,Sibylle Brosch,Rangmar Goelz,Brigitte Vollmer,Brigitte Vollmer +6 more
TL;DR: Aim: To investigate neurodevelopmental outcome and hearing in preterm children with breast milk transmitted human cytomegalovirus (HCMV) infection.
Journal ArticleDOI
Long-term cognitive and neurological outcome of preterm infants with postnatally acquired CMV infection through breast milk
Rangmar Goelz,Christoph Meisner,Andrea Bevot,Klaus Hamprecht,Ingeborg Kraegeloh-Mann,Christian F. Poets +5 more
TL;DR: It seems possible that breast milk-acquired CMV infection has a detrimental influence on cognitive development of preterm infants with breast milk–acquired postnatalCMV infection.