Publications by authors named "Eva Andermann"

66Publications

Duplication 2p16 is associated with perisylvian polymicrogyria.

Am J Med Genet A 2019 12 29;179(12):2343-2356. Epub 2019 Oct 29.

Department of Pediatrics (Genetics) and Neurology, University of Washington, and Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61342DOI Listing
December 2019

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Epilepsia 2018 08 4;59(8):e125-e129. Epub 2018 Jul 4.

Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.14506DOI Listing
August 2018

Research conference summary from the 2014 International Task Force on -Related Disorders.

Neurol Genet 2017 Apr 2;3(2):e139. Epub 2017 Mar 2.

Department of Pediatrics and Pediatric Neurology (H.R.), Georg August University, Göttingen, Germany; Division of Clinical Genetics (L.V.), Department of Pediatrics (T.N., M.T.S.) and Department of Neurology (M.T.S.), University of Utah, Salt Lake City; Center for Human Genetics (S.D.), University Hospitals and Case Western Reserve University, Cleveland, OH; Division of Pediatric Neurology (K.E.), Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN; Center for Human Genetics Research (L.O., M.M., K. Swoboda), Department of Neurology, Massachusetts General Hospital, Boston; Neurogenetics Unit (E.A.) and Epilepsy Research Group (E.A., F.A.), Montreal Neurological Hospital and Institute; Department of Neurology and Neurosurgery (E.A., F.A.), Department of Human Genetics (E.A.), and Department of Pediatrics (F.A.), McGill University, Quebec, Canada; Alternating Hemiplegia of Childhood Foundation (G.A., S.C., L.E., V.P.), Southfield, MI; BCBA (A. Belgrade), Belgrade Behavior Consulting, Chicago, IL; Department of Neurology (A. Brashear), Wake Forest School of Medicine, Winston-Salem, NC; Department of Pharmacology (A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Pediatrics (A.L.), University of Florida College of Medicine, Jacksonville; Integrative Neuropsychology (J.M.), Fairlawn, OH; Association Française de l'Hémiplégie Alternante (D.P.), Paris, France; Rare Disease Innovation Unit (S.R.), Clinical Development Program, Biogen, Cambridge, MA; Department of Child Neurology (M.S.), National Center of Neurology and Psychiatry, Kodaira, Japan; Swedish Neuroscience Institute (M.S.d.M.), Swedish Medical Center, Seattle, WA; Department of Neurosurgery (K. Sweadner), Massachusetts General Hospital and Harvard Medical School, Boston; Neuroscience Institute (M.Z.), Children's Hospital of Orange County, CA; and Departments of Pediatrics and Neurology (K. Silver), University of Chicago and Comer Children's Hospital, Chicago, IL.

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http://dx.doi.org/10.1212/NXG.0000000000000139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335249PMC
April 2017

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.

Epileptic Disord 2016 Sep;18(S2):145-153

Centre Saint-Paul - Hôpital Henri-Gastaut, Marseille, France.

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http://dx.doi.org/10.1684/epd.2016.0861DOI Listing
September 2016

The histopathology of polymicrogyria: a series of 71 brain autopsy studies.

Dev Med Child Neurol 2016 Jan 14;58(1):39-48. Epub 2015 Jul 14.

Department of Neuropathology, Oxford University John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1111/dmcn.12840DOI Listing
January 2016

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Ann Neurol 2015 Apr 13;77(4):675-83. Epub 2015 Mar 13.

Sorbonne Universités, Pierre and Marie Curie University, UPMC Univ Paris 06, UM 75, ICM, Paris, France; National Institute of Health and Medical Research, INSERM U1127, ICM, Paris, France; National Center for Scientific Research, CNRS, UMR 7225, ICM, Paris, France; Brain and Spine Institute, Institut du Cerveau et de la Moelle (ICM), Paris, France.

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http://dx.doi.org/10.1002/ana.24368DOI Listing
April 2015

Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?

Neurology 2014 Sep 20;83(12):1049-55. Epub 2014 Aug 20.

From the Neurogenetics Unit (D.A., E.A.), Epilepsy Clinic (F.A.), and Neuroimmunology Unit (A.B.-O.), Montreal Neurological Hospital and Institute, Quebec, Canada; Departments of Neurology & Neurosurgery (D.A., F.A., E.A., A.B.-O.), Pediatrics (F.A.), and Human Genetics (E.A.), McGill University, Montreal, Quebec, Canada; Okmeydani Education and Research Hospital (D.K.), Istanbul, Turkey; Royal Victoria Infirmary (Y.H.), Newcastle-upon-Tyne, UK; Epilepsy Research Center (S.F.B.), Department of Medicine (Neurology), University of Melbourne, Australia; and Department of Neurology (K.L.), University of California at San Francisco.

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http://www.neurology.org/content/83/12/1049.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000079
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http://dx.doi.org/10.1212/WNL.0000000000000791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166360PMC
September 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

A new locus for familial temporal lobe epilepsy on chromosome 3q.

Epilepsy Res 2013 Oct 14;106(3):338-44. Epub 2013 Aug 14.

Department of Neurology, ULB-Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.eplepsyres.2013.07.007DOI Listing
October 2013

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Epilepsia 2013 Sep 29;54(9):e122-6. Epub 2013 Jul 29.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/epi.12323DOI Listing
September 2013

SCN1A testing for epilepsy: application in clinical practice.

Epilepsia 2013 May 15;54(5):946-52. Epub 2013 Apr 15.

Department of Pediatrics and Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Japan.

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http://dx.doi.org/10.1111/epi.12168DOI Listing
May 2013

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene.

Brain Pathol 2011 Sep 24;21(5):575-82. Epub 2011 Mar 24.

Department ofPathology and Laboratory Medicine, IndianaUniversity School of Medicine, Van Nuys Medical Science Building, Room A128, 635 Barnhill Drive, Indianapolis, IN 46202-5120, USA.

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http://dx.doi.org/10.1111/j.1750-3639.2011.00481.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709456PMC
September 2011

Benign mesial temporal lobe epilepsy.

Nat Rev Neurol 2011 04 25;7(4):237-40. Epub 2011 Jan 25.

Institute of Neurology, University Magna Graecia, Viale Europa, 88100 Catanzaro, Italy.

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http://dx.doi.org/10.1038/nrneurol.2010.212DOI Listing
April 2011

A life in epilepsy.

Epilepsia 2010 Feb;51 Suppl 1:101-3

Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02462.xDOI Listing
February 2010

Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.

Epileptic Disord 2008 Dec;10(4):254-9

Montreal Neurological Institute and Hospital, Quebec, Canada.

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http://dx.doi.org/10.1684/epd.2008.0212DOI Listing
December 2008

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

Epilepsia 2008 May 7;49(5):910-3. Epub 2008 Feb 7.

Neurogenetics Unit, Montreal Neurological Hospital and Institute, Montreal, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01542.xDOI Listing
May 2008

Surgical outcome in tuberous sclerosis complex: a multicenter survey.

Epilepsia 2007 Aug 1;48(8):1625-8. Epub 2007 May 1.

Comprehensive Epilepsy Center, Department of Neurology, NYU Medical Center, 403 East 34th Street, New York, NY 10016, U.S.A.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01112.xDOI Listing
August 2007

Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes.

Mov Disord 2006 Nov;21(11):1794-805

Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY 10468, USA.

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http://dx.doi.org/10.1002/mds.21108DOI Listing
November 2006

Genetic focal epilepsies: state of the art and paths to the future.

Epilepsia 2005 ;46 Suppl 10:61-7

Montreal Neurological Institute and Hospital McGill University, Montreal, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2005.00361.xDOI Listing
January 2006

Periventricular nodular heterotopia with overlying polymicrogyria.

Brain 2005 Dec;128(Pt 12):2811-21

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1093/brain/awh658DOI Listing
December 2005

Mechanisms, genetics, and pathogenesis of juvenile myoclonic epilepsy.

Curr Opin Neurol 2005 Apr;18(2):147-53

Epilepsy Clinic, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/01.wco.0000162856.75391.b1DOI Listing
April 2005

Cortical triggers in generalized reflex seizures and epilepsies.

Brain 2005 Apr 23;128(Pt 4):700-10. Epub 2005 Feb 23.

Department of Neurology and Neurosurgery, Epilepsy Clinic, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1093/brain/awh446DOI Listing
April 2005

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.

Mov Disord 2004 Dec;19(12):1424-31

Neurogenetics Unit, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/mds.20264
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http://dx.doi.org/10.1002/mds.20264DOI Listing
December 2004

Epilepsy and pregnancy: an obstetric perspective.

Am J Obstet Gynecol 2004 Feb;190(2):371-9

Department of Obstetrics and Gynecology, Women's Pavilion, Royal Victoria Hospital, McGill University, Montreal, Quebec, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S000293780301130
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http://dx.doi.org/10.1016/j.ajog.2003.09.020DOI Listing
February 2004

Differential impact of the FMR1 gene on visual processing in fragile X syndrome.

Brain 2004 Mar 21;127(Pt 3):591-601. Epub 2004 Jan 21.

Department of Psychology, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1093/brain/awh069DOI Listing
March 2004

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Nat Genet 2003 Oct 7;35(2):125-7. Epub 2003 Sep 7.

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1038/ng1238DOI Listing
October 2003

alpha-[11C]-Methyl-L-tryptophan PET identifies the epileptogenic tuber and correlates with interictal spike frequency.

Epilepsy Res 2003 Jan;52(3):203-13

Department of Neurology, Montreal Neurological Institute and Hospital, McGill University, Que., Montreal, Canada.

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http://dx.doi.org/10.1016/s0920-1211(02)00216-4DOI Listing
January 2003

Sodium-channel defects in benign familial neonatal-infantile seizures.

Lancet 2002 Sep;360(9336):851-2

Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/S0140-6736(02)09968-3DOI Listing
September 2002

Familial association of neuropsychological traits in patients with generalized and partial seizure disorders.

J Clin Exp Neuropsychol 2002 May;24(3):311-26

Section on Clinical and Experimental Neuropsychology, Laboratory of Brain and Cognition, NIMH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1076/jcen.24.3.311.985DOI Listing
May 2002

Myoclonic status epilepticus: video presentation.

Mov Disord 2002 Mar;17(2):409-11

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mds.10079DOI Listing
March 2002