Publications by authors named "Gemma L Carvill"

46Publications

Poison exons in neurodevelopment and disease.

Curr Opin Genet Dev 2020 Jun 29;65:98-102. Epub 2020 Jun 29.

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

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http://dx.doi.org/10.1016/j.gde.2020.05.030DOI Listing
June 2020

Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force.

Epileptic Disord 2020 Apr;22(2):127-141

Department of Physiology & Medical Physics and FutureNeuro SFI Research Centre Royal College of Surgeons in Ireland, Dublin, Ireland.

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http://dx.doi.org/10.1684/epd.2020.1143DOI Listing
April 2020

CACNA1H variants are not a cause of monogenic epilepsy.

Hum Mutat 2020 Jun 14;41(6):1138-1144. Epub 2020 Apr 14.

The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1002/humu.24017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7301766PMC
June 2020

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.

Epilepsy Curr 2020 Mar 13;20(2):90-96. Epub 2020 Mar 13.

Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

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http://dx.doi.org/10.1177/1535759720906118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160871PMC
March 2020

The path from scientific discovery to cures for epilepsy.

Neuropharmacology 2020 05 10;167:107702. Epub 2019 Jul 10.

Department of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, 80045, USA.

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http://dx.doi.org/10.1016/j.neuropharm.2019.107702DOI Listing
May 2020

: When Neurons Are So Excited, They Just Can't Hide It.

Epilepsy Curr 2019 Jul-Aug;19(4):269-271. Epub 2019 Jul 9.

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http://dx.doi.org/10.1177/1535759719858338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6891829PMC
July 2019

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E.

Authors:
Gemma L Carvill

Epilepsy Curr 2019 May-Jun;19(3):199-201. Epub 2019 May 7.

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http://dx.doi.org/10.1177/1535759719845324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610379PMC
May 2019

Dravet syndrome in South African infants: Tools for an early diagnosis.

Seizure 2018 Nov 14;62:99-105. Epub 2018 Sep 14.

Paediatric Neurology and Neurophysiology, Red Cross Children's War Memorial Hospital, Cape Town, South Africa; School of Child and Adolescent Health, University of Cape Town, South Africa. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183049
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http://dx.doi.org/10.1016/j.seizure.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261486PMC
November 2018

Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.

J Neurogenet 2018 12 24;32(4):295-312. Epub 2018 Sep 24.

a Department of Neurology , Northwestern University Feinberg School of Medicine , Chicago , IL , USA.

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1513509DOI Listing
December 2018

Chromatin Remodeling Proteins in Epilepsy: Lessons From -Associated Epilepsy.

Front Mol Neurosci 2018 15;11:208. Epub 2018 Jun 15.

Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, United States.

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http://dx.doi.org/10.3389/fnmol.2018.00208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013553PMC
June 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

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology 2016 Nov 12;87(19):1975-1984. Epub 2016 Oct 12.

From the School of Medicine and Robinson Research Institute (M.A.C., R.C., J.G.) and School of Biological Sciences (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (S.T.B., S. Micallef, S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg; Florey Institute of Neuroscience and Mental Health (M.L., S. Maljevic, E.V.G., S.P., I.E.S.), Melbourne; Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.T.M., H.C.M.), University of Washington, Seattle; Department of Neurology (K.B.H., I.E.S.), Royal Children's Hospital; Neurosciences Group (K.B.H.), Murdoch Childrens Research Institute, Melbourne; Department of Paediatrics (K.B.H.), University of Melbourne, Royal Children's Hospital, Parkville, Australia; Department of Neurology and Epileptology (S. Maljevic, H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; The Walter and Eliza Hall Institute of Medical Research (M.B.); Department of Medical Biology (M.B.), The University of Melbourne, Parkville; and Department of Medicine, Royal Melbourne Hospital (S.P.), The University of Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109949PMC
November 2016

Next-Generation Sequencing in Intellectual Disability.

J Pediatr Genet 2015 Sep 12;4(3):128-35. Epub 2015 Oct 12.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States.

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http://dx.doi.org/10.1055/s-0035-1564439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918717PMC
September 2015

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Neurol Genet 2015 Aug 23;1(2):e17. Epub 2015 Jul 23.

Division of Genetic Medicine (G.L.C., J. Saykally, M.Z., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Epilepsy Research Centre (D.E.C., B.M.R., J.M.M., A.L.S., S.A.M., S.F.B., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia; Neurology Department (D.E.C.), Northern Health, Melbourne, Australia; Epilepsy Research Program (L.D.), School of Pharmacy and Medical Sciences, and Sansom Institute for Health Research (L.D.), University of South Australia, Adelaide, Australia; Department of Neurology (K.B.H., R.J.L., A.S.H., I.E.S.), Royal Children's Hospital, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health (K.B.H., S.M., R.J.L., A.S.H., S.A.M., I.E.S.), Melbourne, Australia; Murdoch Childrens Research Institute (K.B.H., R.J.L., A.S.H.), Melbourne, Australia; Department of Paediatrics (S.M., R.J.L., A.S.H.) and Department of Radiology (S.M.), The University of Melbourne, Melbourne, Australia; and Epilepsy Division (J. Sullivan), Department of Neurology and Pediatrics, University of California, San Francisco.

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http://dx.doi.org/10.1212/NXG.0000000000000016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807908PMC
August 2015

A targeted resequencing gene panel for focal epilepsy.

Neurology 2016 Apr 30;86(17):1605-12. Epub 2016 Mar 30.

From the Epilepsy Research Centre (M.S.H., B.M.R., J.A.D., S.A.M., M.R.N., I.E.S., S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia; Division of Genetic Medicine (C.T.M., G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Florey Institute for Neuroscience and Mental Health (U.N., E.V.G., C.J.M., C.A.R., S.P., I.E.S.), University of Melbourne, Melbourne, Victoria, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia; and Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://www.neurology.org/content/early/2016/03/30/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000260
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http://dx.doi.org/10.1212/WNL.0000000000002608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844234PMC
April 2016

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

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

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

PLoS Genet 2015 Mar 12;11(3):e1005022. Epub 2015 Mar 12.

Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America; Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Molecular and Cellular Biology, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Neuroscience, The University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357451PMC
March 2015

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Neurology 2015 Mar 11;84(9):951-8. Epub 2015 Feb 11.

From the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000130
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http://dx.doi.org/10.1212/WNL.0000000000001305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351660PMC
March 2015

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
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http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

PLoS One 2013 3;8(12):e80737. Epub 2013 Dec 3.

The University of Iowa, Iowa City, Iowa, United States of America ; Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America ; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080737PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849077PMC
August 2014

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Neurology 2013 Oct 25;81(17):1507-14. Epub 2013 Sep 25.

From the Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Epilepsy Research Centre, Department of Medicine, Austin and Northern Health (S.B., S.F.B., I.E.S.), and Department of Paediatrics, Royal Children's Hospital (I.E.S.), University of Melbourne, Australia; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; and Epilepsy Research Program, School of Pharmacy and Medical Sciences (M.A.B., L.M.D.), and Sansom Institute for Health Research (M.A.B., L.M.D.), University of South Australia, Adelaide.

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http://dx.doi.org/10.1212/WNL.0b013e3182a95829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888172PMC
October 2013

Microdeletion syndromes.

Curr Opin Genet Dev 2013 Jun 9;23(3):232-9. Epub 2013 May 9.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.gde.2013.03.004DOI Listing
June 2013