V
Venkateswaran Ramesh
Researcher at Boston Children's Hospital
Publications - 5
Citations - 610
Venkateswaran Ramesh is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & EAST syndrome. The author has an hindex of 5, co-authored 5 publications receiving 471 citations.
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Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy
Amy McTague,Umesh Nair,Sony Malhotra,Esther Meyer,Natalie Trump,Elena V. Gazina,Apostolos Papandreou,Adeline Ngoh,Sally Ackermann,Gautam Ambegaonkar,Richard Appleton,Archana Desurkar,Christin Eltze,Rachel Kneen,Ajith V. Kumar,Karine Lascelles,Tara Montgomery,Venkateswaran Ramesh,Rajib Samanta,Richard H. Scott,Jeen Tan,William P Whitehouse,Annapurna Poduri,Ingrid E. Scheffer,W.K. “Kling” Chong,J. Helen Cross,Maya Topf,Steven Petrou,Manju A. Kurian +28 more
TL;DR: Gain-of-function KCNT1 pathogenic variants cause a spectrum of severe focal epilepsies with onset in early infancy, and genotype-phenotype correlations are unclear, although clinical outcome is poor for the majority of cases.
Journal ArticleDOI
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
J. Helen Cross,Ruchi Arora,Rolf A. Heckemann,Roxana Gunny,Kling Chong,Lucinda Carr,Torsten Baldeweg,Ann-Marie Differ,Nicholas Lench,Sophie Varadkar,Tony Sirimanna,Evangeline Wassmer,Sally A. Hulton,M Ognjanovic,Venkateswaran Ramesh,Sally Feather,Robert Kleta,Alexander Hammers,Detlef Bockenhauer +18 more
TL;DR: A detailed characterization of the clinical features of the EAST syndrome is provided to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.
Journal ArticleDOI
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
TL;DR: A 14-month-old girl with TUBA1A mutation-associated lissencephaly is described, and the clinical and neuroradiologic findings of 19 cases in the literature are summarized.
Journal ArticleDOI
Familial paroxysmal rhabdomyolysis: management of two cases of the non-exertional type.
TL;DR: Familial paroxysmal rhabdomyolysis with myoglobinuria is a rare and life‐threatening disease of young children, of unknown aetiology, and fasting appears to be the crucial factor precipitating attacks.