Annapurna Poduri

Annapurna Poduri

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Annapurna Poduri

Publications by authors named "Annapurna Poduri"

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Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.

Hum Mol Genet 2019 Sep;28(17):2952-2964

Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1093/hmg/ddz123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736288PMC
September 2019

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

Epilepsy Res 2019 Sep 2;155:106161. Epub 2019 Jul 2.

Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106161DOI Listing
September 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Mutations in and in a patient with early-onset epileptic encephalopathy and respiratory depression.

Cold Spring Harb Mol Case Stud 2019 Feb 1;5(1). Epub 2019 Feb 1.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/mcs.a003442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371743PMC
February 2019

Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.

Neurology 2019 Jan 4. Epub 2019 Jan 4.

From the Epilepsy Genetics Program (B.R.S., A.P.), Division of Epilepsy and Clinical Neurophysiology (I.S.F., T.L., M.G.-L., B.R.S., A.P.), Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Child Neurology (I.S.F.), Hospital Sant Joan de Déu, Universidad de Barcelona, Spain; and Facultad de Medicina (M.G.-L.), Universidad Austral de Chile, Valdivia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369901PMC
January 2019

An Open-Source Husbandry Repository.

Zebrafish 2018 12 5;15(6):656-658. Epub 2018 Sep 5.

1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital , Boston, Massachusetts.

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https://www.liebertpub.com/doi/10.1089/zeb.2018.1583
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http://dx.doi.org/10.1089/zeb.2018.1583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426270PMC
December 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatr Neurol 2018 10 7;87:48-56. Epub 2018 May 7.

Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183034
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.012DOI Listing
October 2018

Return of individual results in epilepsy genomic research: A view from the field.

Epilepsia 2018 09 10;59(9):1635-1642. Epub 2018 Aug 10.

Department of Neurology, University of California, San Francisco, San Francisco, California.

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http://dx.doi.org/10.1111/epi.14530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119474PMC
September 2018

Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.

JAMA Pediatr 2018 Aug;172(8):779-780

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamapediatrics.2018.0769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142924PMC
August 2018

Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms.

J Child Neurol 2018 05 26;33(6):405-412. Epub 2018 Mar 26.

4 Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://journals.sagepub.com/doi/10.1177/0883073818760424
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http://dx.doi.org/10.1177/0883073818760424DOI Listing
May 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?

Front Neurol 2018 2;9:276. Epub 2018 May 2.

School of Child and Adolescent Health, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.3389/fneur.2018.00276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940732PMC
May 2018

White matter spongiosis with vigabatrin therapy for infantile spasms.

Epilepsia 2018 04 23;59(4):e40-e44. Epub 2018 Feb 23.

Robert's Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1111/epi.14032DOI Listing
April 2018

and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete Deletion.

Pediatrics 2018 04;141(Suppl 5):S434-S438

Clinical Pharmacogenomics Service,

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http://dx.doi.org/10.1542/peds.2017-1361DOI Listing
April 2018

A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.

Neurobiol Dis 2018 03 20;111:91-101. Epub 2017 Dec 20.

Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803417PMC
March 2018

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

Epilepsia 2018 03 28;59(3):679-689. Epub 2018 Jan 28.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1111/epi.14003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264912PMC
March 2018

Clinical and molecular characterization of -related severe early-onset epilepsy.

Neurology 2018 01 1;90(1):e55-e66. Epub 2017 Dec 1.

From Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754647PMC
January 2018

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Cell Rep 2017 12;21(13):3754-3766

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.11.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752134PMC
December 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish.

PLoS One 2016 9;11(6):e0156498. Epub 2016 Jun 9.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0156498PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900632PMC
July 2017

A Model Program for Translational Medicine in Epilepsy Genetics.

J Child Neurol 2017 03 6;32(4):429-436. Epub 2017 Jan 6.

1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816685654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625332PMC
March 2017

When Should Genetic Testing Be Performed in Epilepsy Patients?

Authors:
Annapurna Poduri

Epilepsy Curr 2017 Jan-Feb;17(1):16-22

Attending Physician/Director, Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA.

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http://journals.sagepub.com/doi/10.5698/1535-7511-17.1.16
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http://dx.doi.org/10.5698/1535-7511-17.1.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340549PMC
March 2017

Compound heterozygosity with : Pushing the phenotypic envelope in genetic epilepsies.

Epilepsy Behav Case Rep 2019 1;11:125-128. Epub 2017 Feb 1.

Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, and Harvard Medical School, Boston, MA 02115, United States.

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http://dx.doi.org/10.1016/j.ebcr.2016.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525261PMC
February 2017

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

J Child Neurol 2017 01 23;32(1):127-131. Epub 2016 Oct 23.

2 Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1177/0883073816672998DOI Listing
January 2017

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.

Neuroscientist 2016 12 29;22(6):555-562. Epub 2016 Apr 29.

Division of Epilepsy and Clinical Electrophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/1073858416645087DOI Listing
December 2016

Tracking the Fate of Cells in Health and Disease.

N Engl J Med 2016 Dec;375(25):2494-2496

From Boston Children's Hospital, Harvard Medical School, Boston.

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http://dx.doi.org/10.1056/NEJMcibr1612882DOI Listing
December 2016

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.

J Neuropathol Exp Neurol 2016 Oct 9;75(10):981-997. Epub 2016 Sep 9.

From the Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (HCK, RLH, LT, RD); Epilepsy Genetics Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (AHP); Division of Neuropathology, Beaumont Hospital, Dublin, Ireland (JBC); Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (LAS); Department of Genetics and Genomic Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (IAH, GTB, CB); Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (SPP, SKW); Division of Child Neurology, Nemours Children's Specialty Care, Jacksonville, Florida (HAS); Barrow Neurological Institute, Phoenix Children's Hospital, Department of Child Health, University of Arizona College of Medicine Phoenix Children's Hospital, Phoenix, Arizona (MK); Department of Pathology, University of North Dakota School of Medicine and Health Sciences, Grand Forks, North Dakota (WLK); Department of Cellular Pathology Birmingham Women's Hospital, Birmingham, UK (BH); Division of Mental Health and Wellbeing, University of Warwick, and Coventry and Warwickshire Partnership NHS Trust, Coventry, UK (JG); Office of the Medical Examiner, County of San Diego, California (OJM); Department of Pathology, Rady Children's Hospital, San Diego, California (EAH); Department of Pathology, Baylor College of Medicine, Retired Professor of Pathology, Houston, Texas (DDA); Department of Psychosocial Oncology and Palliative Care, Dana-Farber Cancer Institute, Department of Medicine, Boston Children's Hospital, and Harvard Medical School, Boston, Massachusetts (RDG).

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http://dx.doi.org/10.1093/jnen/nlw075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281079PMC
October 2016

Effectiveness of once-daily high-dose ACTH for infantile spasms.

Epilepsy Behav 2016 06 13;59:4-8. Epub 2016 Apr 13.

Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.yebeh.2016.03.025DOI Listing
June 2016

Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings.

Pediatr Neurol 2016 05 26;58:25-30. Epub 2015 Nov 26.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.11.005DOI Listing
May 2016

Comparison of Drug Utilization Patterns in Observational Data: Antiepileptic Drugs in Pediatric Patients.

Paediatr Drugs 2015 Oct;17(5):401-10

Division of Emergency Medicine, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s40272-015-0139-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573831PMC
October 2015

Juvenile myoclonic epilepsy and narcolepsy: A series of three cases.

Epilepsy Behav 2015 Oct 16;51:163-5. Epub 2015 Aug 16.

Comprehensive Epilepsy Center, Department of Neurology, New York University Langone Medical Center, New York, NY 10016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.07.030DOI Listing
October 2015

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Am J Med Genet A 2015 Sep 25;167A(9):2017-25. Epub 2015 Apr 25.

Epilepsy Genetics Program, Division of Epilepsy & Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.37132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722031PMC
September 2015

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

Neurology 2015 Sep 19;85(11):958-66. Epub 2015 Aug 19.

From the Departments of Neurology (K.B.H., M.T.M., V.R.-C., J.L.F., A.S.H., I.E.S.) and Radiology (S.M.), The Royal Children's Hospital, Melbourne; Department of Paediatrics (K.B.H., M.T.M., S.M., A.S.H., I.E.S.), The University of Melbourne; Murdoch Childrens Research Institute (K.B.H., M.T.M., J.L.F., A.S.H.), Melbourne; Epilepsy Research Centre (J.M.M., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Paediatrics, University of Washington, Seattle; Epilepsy Genetics Program (D.T., H.E.O., A.P.), Department of Neurology, Harvard Medical School, Boston Children's Hospital, MA; TY Nelson Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Sydney; Department of Neurology (D.C.), Women's and Children's Hospital, Adelaide; Neurosciences Children's Health Queensland (S.C.), Lady Cilento Children's Hospital, Brisbane; and Florey Institute of Neuroscience and Mental Health (S.M., A.S.H., I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567464PMC
September 2015

The genetics of the epilepsies.

Curr Neurol Neurosci Rep 2015 Jul;15(7):39

Division of Epilepsy, Department of Neurology, Boston Children's Hospital, and Harvard Medical School, Fegan 9, 300 Longwood Ave, Boston, MA, 02115, USA,

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http://link.springer.com/10.1007/s11910-015-0559-8
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http://dx.doi.org/10.1007/s11910-015-0559-8DOI Listing
July 2015

Megalencephaly and Macrocephaly.

Semin Neurol 2015 Jun 10;35(3):277-87. Epub 2015 Jun 10.

Epilepsy Genetics Program, Division of Epilepsy and Clinical Electrophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1055/s-0035-1552622DOI Listing
June 2015

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Am J Hum Genet 2015 May 9;96(5):709-19. Epub 2015 Apr 9.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570282PMC
May 2015

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Ann Neurol 2015 Apr 26;77(4):720-5. Epub 2015 Feb 26.

Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA.

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http://dx.doi.org/10.1002/ana.24357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4471336PMC
April 2015

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Ann Neurol 2014 Oct 19;76(4):581-93. Epub 2014 Sep 19.

Department of Molecular Biology, Cell Biology, and Biochemistry and Laboratory for Molecular Medicine, Institute for Brain Science, Brown University, Providence, RI; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, East Providence, RI.

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http://dx.doi.org/10.1002/ana.24225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4304796PMC
October 2014

A channel for precision diagnosis and treatment in genetic epilepsy.

Authors:
Annapurna Poduri

Ann Neurol 2014 Sep;76(3):323-4

Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.

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http://dx.doi.org/10.1002/ana.24243DOI Listing
September 2014

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Cell Rep 2014 Sep 21;8(5):1280-9. Epub 2014 Aug 21.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA; Program of Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.07.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272008PMC
September 2014

Surgery for intractable epilepsy due to unilateral brain disease: a retrospective study comparing hemispherectomy techniques.

Pediatr Neurol 2014 Sep 22;51(3):336-43. Epub 2014 May 22.

Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.018DOI Listing
September 2014

Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience.

Epilepsia 2014 Aug 28;55(8):1235-44. Epub 2014 Jul 28.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, U.S.A; Department and Institute of Psychiatry, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1111/epi.12689DOI Listing
August 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

Genetic forms of epilepsies and other paroxysmal disorders.

Semin Neurol 2014 Jul 5;34(3):266-79. Epub 2014 Sep 5.

Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0034-1386765
Publisher Site
http://dx.doi.org/10.1055/s-0034-1386765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834292PMC
July 2014

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.

Am J Med Genet C Semin Med Genet 2014 Jun 28;166C(2):156-72. Epub 2014 May 28.

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http://dx.doi.org/10.1002/ajmg.c.31401DOI Listing
June 2014

Genetic testing in the epilepsies-developments and dilemmas.

Nat Rev Neurol 2014 May 15;10(5):293-9. Epub 2014 Apr 15.

Gertrude H. Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, and Department of Epidemiology, Mailman School of Public Health, Columbia University, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1038/nrneurol.2014.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090104PMC
May 2014

DEPDC5 does it all: shared genetics for diverse epilepsy syndromes.

Authors:
Annapurna Poduri

Ann Neurol 2014 May 8;75(5):631-3. Epub 2014 May 8.

Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology Department of Neurology, Boston Children's Hospital, Boston, MA.

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http://dx.doi.org/10.1002/ana.24160DOI Listing
May 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis.

Neuroimage 2014 Feb 15;86:182-93. Epub 2013 Aug 15.

Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Fetal Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Deptartment of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.neuroimage.2013.08.011DOI Listing
February 2014

Reply: To PMID 24243345.

Ann Neurol 2014 Feb 2;75(2):326. Epub 2014 Jan 2.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1002/ana.24055DOI Listing
February 2014

Perfusion Imaging of Focal Cortical Dysplasia Using Arterial Spin Labeling: Correlation With Histopathological Vascular Density.

J Child Neurol 2013 Nov 21;28(11):1474-1482. Epub 2013 May 21.

1Division of Newborn Medicine, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1177/0883073813488666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5030104PMC
November 2013

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Neurology 2013 Nov 9;81(19):1697-703. Epub 2013 Oct 9.

From the Neurogenetics Group (S.W., R.H., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., R.H., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Department of Paediatrics (V.I.), University Hospital Centre Zagreb, Croatia; Division of Pediatric Neurology and Metabolism (R.V.C.), Department of Pediatrics, University Hospital Ghent, Belgium; Danish Epilepsy Centre (H.H., R.S.M.), Dianalund; Institute for Regional Health Research (H.H.), University of Southern Denmark, Odense; Department of Child Neurology (S.G.), Juliane Marie Center, Rigshospital, Copenhagen, Denmark; Pediatric Neurology (A.-S.S., B.C.), Department of Neurology (A.-S.S., B.C., P.D.J.), Antwerp University Hospital, Antwerp University, Antwerp, Belgium; Epilepsy Research Centre (S.B.H., S.M., I.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Great Ormond Street Hospital (C.E.), London; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Child Neurology and Neurorehabilitation Unit (G.C., M.A.), Department of Pediatrics, Central Hospital of Bolzano; Neurology Unit and laboratories (T.P., R.G., C.M.), A. Meyer Children's Hospital, Florence; Child Neuropsychiatry Unit (L.G.), Spedali Civili, Brescia, Italy; Pädiatrie I (K.R., E.H.), Division of Pediatric Neurology, University Hospital Innsbruck, Austria; University Hospital Essen (B.A.), University Duisburg-Essen; Department of Paediatric Neurology and Developmental Medicine (A.B.), University Children's Hospital Tübingen, Eberhard Karls University of Tübingen; Center for Child Neurology (I.B.), Sana Krankenhaus Gerresheim, Düsseldorf; Department of Neuropediatrics (S.S.), Hospital for Children and Adolescents, University of Leipzig, Germany; Department of Neurology (B.S., A.P.), Boston Children's Hospital, Harvard School of Medicine; Department of Biology (B.S.), Brandeis U

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http://dx.doi.org/10.1212/01.wnl.0000435296.72400.a1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812107PMC
November 2013

Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis.

Epilepsia 2013 Oct 23;54(10):1753-60. Epub 2013 Aug 23.

Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, U.S.A; Harvard Medical School, Boston, Massachusetts, U.S.A.

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http://dx.doi.org/10.1111/epi.12334DOI Listing
October 2013

Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report.

Forensic Sci Med Pathol 2013 Sep 14;9(3):418-21. Epub 2013 Jul 14.

Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s12024-013-9448-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897270PMC
September 2013

De novo mutations in epileptic encephalopathies.

Nature 2013 Sep 11;501(7466):217-21. Epub 2013 Aug 11.

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http://dx.doi.org/10.1038/nature12439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011PMC
September 2013

Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project.

Epilepsia 2013 Aug 10;54(8):1368-75. Epub 2013 Jun 10.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1111/epi.12238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851304PMC
August 2013

Somatic mutation, genomic variation, and neurological disease.

Science 2013 Jul;341(6141):1237758

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1237758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909954PMC
July 2013