Publications by authors named "Dennis Lal"

75Publications

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.

Epilepsia 2020 Nov 17. Epub 2020 Nov 17.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.16755DOI Listing
November 2020

Polygenic risk heterogeneity among focal epilepsies.

Epilepsia 2020 Oct 14. Epub 2020 Oct 14.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.16717DOI Listing
October 2020

The role of sodium channels in sudden unexpected death in pediatrics.

Mol Genet Genomic Med 2020 08 25;8(8):e1309. Epub 2020 May 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434613PMC
August 2020

Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application.

Dev Med Child Neurol 2020 07 30;62(7):784-792. Epub 2020 Mar 30.

Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14519DOI Listing
July 2020

Vasospasm Following Hemispherectomy: A Case Report of a Novel Complication.

World Neurosurg 2020 05 12;137:357-361. Epub 2020 Feb 12.

Department of Neurosurgery, Cleveland Clinic Foundation, Cleveland, Ohio, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.wneu.2020.02.020DOI Listing
May 2020

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

JAMA Netw Open 2020 01 3;3(1):e1920415. Epub 2020 Jan 3.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamanetworkopen.2019.20415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042875PMC
January 2020

Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders.

Eur J Paediatr Neurol 2020 Jan 28;24:129-133. Epub 2019 Dec 28.

Cologne Center for Genomics, University of Cologne, University Hospital Cologne, Cologne, Germany; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Cambridge, MA, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2019.12.019DOI Listing
January 2020

Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies.

Eur J Paediatr Neurol 2020 Jan 17;24:35-39. Epub 2019 Dec 17.

Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH, 44195, USA; Cologne Center for Genomics (CCG), University of Cologne, 50931, Cologne, Germany; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2019.12.001DOI Listing
January 2020

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Pediatr Neurol 2019 08 23;97:18-25. Epub 2019 Feb 23.

Children's Hospital Colorado, University of Colorado, School of Medicine, Aurora, Colorado; Department of Pediatrics, University of Colorado, School of Medicine, Aurora, Colorado; Department of Pharmacology, University of Colorado, School of Medicine, Aurora, Colorado; Department of Neurology, University of Colorado, School of Medicine, Aurora, Colorado; Department of Otolaryngology, University of Colorado, School of Medicine, Aurora, Colorado.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7120929PMC
August 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

Spectrum of GABAA receptor variants in epilepsy.

Curr Opin Neurol 2019 04;32(2):183-190

Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0000000000000657DOI Listing
April 2019

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Epilepsia 2018 11 20;59(11):2145-2152. Epub 2018 Oct 20.

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.14579DOI Listing
November 2018

Genetics Sheds New Light on Congenital Hydrocephalus Biology.

Neuron 2018 07;99(2):246-247

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland, University of Helsinki, 00290 Helsinki, Finland; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2018.07.008DOI Listing
July 2018

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Neurol Genet 2018 Feb 26;4(1):e210. Epub 2018 Jan 26.

Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820601PMC
February 2018

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

PLoS One 2018 19;13(1):e0191546. Epub 2018 Jan 19.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191546PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774806PMC
February 2018

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

EMBO Mol Med 2015 Dec;7(12):1580-94

Department of Chemistry, Institute of Biochemistry University of Cologne, Cologne, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) University of Cologne, Cologne, Germany

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15252/emmm.201505323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693503PMC
December 2015

Investigation of GRIN2A in common epilepsy phenotypes.

Epilepsy Res 2015 Sep 2;115:95-9. Epub 2015 Jun 2.

Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2015.05.010DOI Listing
September 2015

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Epilepsia 2015 Sep 15;56(9):e129-33. Epub 2015 Jul 15.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.13076DOI Listing
September 2015

DEPDC5 mutations in genetic focal epilepsies of childhood.

Ann Neurol 2014 May 14;75(5):788-92. Epub 2014 Apr 14.

Cologne Center for Genomics, University of Cologne, Cologne, Germany; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.24127
Publisher Site
http://dx.doi.org/10.1002/ana.24127DOI Listing
May 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.

View Article

Download full-text PDF

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

RBFOX1 and RBFOX3 mutations in rolandic epilepsy.

PLoS One 2013 6;8(9):e73323. Epub 2013 Sep 6.

Cologne Center for Genomics, University of Cologne, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany ; Department of Neuropediatrics, University Medical Clinic Giessen, Giessen, Germany.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073323PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765197PMC
June 2014

ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes.

Nat Immunol 2011 May 20;12(5):441-9. Epub 2011 Mar 20.

Ramaciotti Immunization Genomics Laboratory, Department of Immunology, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ni.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272780PMC
May 2011