I. Blumcke
15 Papers
4 Citations
I. Blumcke is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 3, co-authored 8 publications.
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Papers
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Keng Ioi Vong,Swapnil Mittal,Catharina Donkels,H. Westley Phillips,Zhen Li,Ashley P L Marsh,Laurel L. Ball,Camila Araújo Bernardino Garcia,Renee D. George,Jing Gu,Mingchu Xu,Chelsea Barrows,Kiely N. James,Valentina Stanley,Anna S Nidhiry,Sami Khoury,Gabrielle Howe,Emily Riley,Xin Xu,Brett Copeland,Yifan Wang,Hoon Chul Kang,Andreas Schulze-Bonhage,Carola A. Haas,Horst Urbach,Marco Prinz,David D. Limbrick,Christina A. Gurnett,David D. Gonda,Katsumi Imai,Hsin Hung Chen,Valerio Conti,W. A. Silva,Hélio Rubens Machado,Sara Baldassari,Stéphanie Baulac,Diane Masser-Frye,Shifteh Sattar,Mark Nespeca,Yukitoshi Takahashi,J. Tsai,Renzo Guerrini,Orrin Devinsky,Se Hoon Kim,Hoon-Chul Kang,Yasemin Alanay,Seema Kapoor,Carola A. Haas,Georgia Ramantani,Thomas J. Feuerstein,I. Blumcke,Robyn M. Busch,Zhong Ying,Vadym Biloshytsky,Kostiantyn Kostiuk,Eugene Pedachenko,Gary W. Mathern,Matthew D. Smyth,Ingo Helbig,Benjamin C. Kennedy,Judy S. Liu,Felix Chan,Darcy A. Krueger,Richard Frye,Angus A. Wilfong,David L. Adelson,William Gaillard,Chima O. Oluigbo,Anne E. Anderson,August Yue Huang,Alissa M. D'Gama,Caroline Dias,Christopher A. Walsh,Javier Ganz,Michael A. Lodato,Michael Miller,Pengpeng Li,Rachel E. Rodin,R. Sean Hill,Sara Bizzotto,Sattar Khoshkhoo,Zinan Zhou,Alice Lee,Alison R. Barton,Alon Galor,C. Chu,Craig L. Bohrson,Doga Gulhan,Eduardo A Maury,Elaine T. Lim,Giorgio E. M. Melloni,Isidro Cortés,Jake Lee,Joe J Luquette,Lixing Yang,Maxwell A. Sherman,Michael E. Coulter,Minseok Kwon,Peter J. Park,Rebeca Borges-Monroy,Semin Lee,Sonia N. Kim,S. Lee,Vinary Viswanadham,Yanmei Dou,Andrew Chess,Attila G. Jones,Chaggai Rosenbluh,Schahram Akbarian,Ben Langmead,Jeremy Thorpe,Sea Eun Cho,Andrew E. Jaffe,Apuã C. M. Paquola,Daniel R. Weinberger,Jennifer A. Erwin,Joo Ho Shin,Michael J. McConnell,R. Straub,Rujuta Narurkar,Alexej Abyzov,Taejeong Bae,Yeongjun Jang,Anjené M. Addington,Geetha Senthil,Cindy Molitor,Mette A. Peters,Fred H. Gage,Mei-Ling Wang,Patrick Reed,Sara B. Linker,Alexander E. Urban,Bo Zhou,Reenal Pattni,Xiaowei Zhu,Aitor Serres Amero,David Juan,Inna S. Povolotskaya,Irene Lobon,Manuel Solis Moruno,Raquel Garcia Perez,Tomas Marques-Bonet,Eduardo Soriano,G D Mathern,Danny Antaki,Dan Averbuj,Eric Courchesne,Joseph G. Gleeson,Martin W. Breuss,Subhojit Roy,Xiaoxu Yang,Changuk Chung,Chen Sun,Diane Flasch,Trenton J. Frisbie Trenton,Huira C. Kopera,Jeffrey M. Kidd,John B. Moldovan,John V. Moran,Kenneth Y. Kwan,Ryan E. Mills,Sarah B. Emery,Weichen Zhou,Xuefang Zhao,Aakrosh Ratan,Adriana Cherskov,Alexandre Jourdon,Flora M. Vaccarino,Liana Fasching,Nenad Sestan,Sirisha Pochareddy,Soraya Scuder +171 more
TL;DR: In this article , the authors report a genetic landscape from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation including in utero electroporation of mice and single-nucleus RNA sequencing.
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.
Maurits W Sanders,Iskander Van der Wolf,Floortje E Jansen,E. Aronica,Christoph Helmstaedter,Attila Rácz,Rainer Surges,Alexander Grote,Albert J. Becker,Sylvain Rheims,Hélène Catenoix,John S. Duncan,Jane de Tisi,Thomas S. Jacques,J. H. Cross,R. Kalviainen,Tuomas Rauramaa,Francine Chassoux,Bertrand Devaux,Giancarlo Di Gennaro,Vincenzo Esposito,Istvan Bodi,Mrinalini Honavar,C. G. Bien,Thomas Cloppenborg,Roland Coras,Hajo M Hamer,Petr Marusic,Adam Kalina,Tom Pieper,Manfred Kudernatsch,Till Hartlieb,Tim J. von Oertzen,Martin Aichholzer,George Dorfmuller,Mathilde Chipaux,Soheyl Noachtar,Elisabeth Kaufmann,Andreas Schulze-Bonhage,Christian Scheiwe,Ciḡdem Özkara,Thomas Grunwald,Kristina Koenig,R. Guerrini,Carmen Barba,A. Buccoliero,Flavio Giordano,Felix Rosenow,Katja Menzler,Rita Garbelli,Francesco Deleo,Pavel Krsek,Barbora Straka,A. Arzimanoglou,J. Toulouse,W. Van Paesschen,Tom Theys,José Pimentel,Isabel M Loução De Amorim,Nicola Specchio,Luca De Palma,Martha Feucht,Theresa Scholl,Karl Roessler,R. Toledano Delgado,Antonio Gil-Nagel,Savo Raičević,Aleksandar J Ristic,O. Schijns,Jan Beckervordersandforth,Victoria San Antonio-Arce,Jordi Rumiá,I. Blumcke,Kees P.J. Braun +73 more
TL;DR: It is shown that seizure freedom can be reached in 40% of nonlesional patients with both normal MRI and histopathology findings, and patients with an electroclinically identified focus, who are nonlesional, will be a promising group for advanced molecular-genetic analysis of brain tissue specimens to identify new brain somatic epilepsy genes or epilepsy-associated molecular pathways.
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Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
Carmen Barba,I. Blumcke,Melodie R. Winawer,Till Hartlieb,Hoon Chul Kang,Laura Grisotto,Mathilde Chipaux,Christian G. Bien,Barbora Heřmanovská,Brenda E. Porter,Hart G.W. Lidov,Valentina Cetica,Friedrich G. Woermann,Javier A López-Rivera,Peter Canoll,Irina Mader,Ludovico D'Incerti,Sara Baldassari,Edward Yang,Ahmed Gaballa,Hannes Vogel,Barbora Straka,L. L. Macconi,Tilman Polster,Gerald A. Grant,Lenka Krskova,Hui Jin Shin,Ara Ko,Peter B. Crino,Pavel Krsek,Jeong Ho Lee,Dennis Lal,Stéphanie Baulac,Annapurna Poduri,Renzo Guerrini +34 more
TL;DR: In this article , the SLC35A2 gene variants were associated with early epileptic encephalopathy (EE) and drug-resistant focal epilepsy (DR-FE) associated with normal/borderline cognitive function and specific neuropsychological deficits.
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Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
Sattar Khoshkhoo,Yu Wang,Y. Chahine,E. Zeynep Erson-Omay,S. Robert,Emre Kiziltug,Eyiyemisi C. Damisah,Carol Nelson-Williams,Ganqian Zhu,Weili Kong,Ariane Huang,Edward Stronge,Hunter Phillips,Brian Chhouk,Sara Bizzotto,M. Chen,Thiruni N. Adikari,Zhong-xing Ye,Tom Witkowski,Dong Lai,Namsoo Lee,Julie Lokan,Ingrid E. Scheffer,Samuel F. Berkovic,S. Haider,Michael S. Hildebrand,En-Hui Yang,Mustafa Ercan Gunel,Richard P. Lifton,Matthew G Richardson,I. Blumcke,Sanda Alexandrescu,Anita Huttner,Erin L. Heinzen,J. Zhu,Annapurna Poduri,N. Delanerolle,Dennis D. Spencer,E. Lee,Christopher T. Walsh,Kristopher T. Kahle +40 more
TL;DR: In this paper , a case-control genetic association study analyzed the DNA derived from hippocampal tissue of neurosurgically-treated patients with Mesial temporal lobe epilepsy and age-and sex-matched neurotypical controls.
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Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: insights into disease mechanisms and tissue characterization
Guilherme Rossi Assis-Mendonça,Maria Carolina Pedro Athie,João Vitor Gerdulli Tamanini,A. D. de Souza,Gabriel Gerardini Zanetti,P. A. O. R. Araújo,Enrico Ghizoni,Helder Tedeschi,Marina K. M. Alvim,Vanessa Silva de Almeida,W. D. de Souza,Roland Coras,Clarissa L. Yasuda,I. Blumcke,André Schwambach Vieira,Fernando Cendes,Iscia Lopes-Cendes,Fabio Rogerio +17 more
TL;DR: This study contributed to identifying cortical enrichment of cholesterol biosynthesis in FCD type II, which may correspond to a neuroprotective response to seizures, which is a common cause of pharmacoresistant epilepsy.
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