Johannes R Lemke

Johannes R Lemke

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Johannes R Lemke

Johannes R Lemke

Publications by authors named "Johannes R Lemke"

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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Am J Med Genet A 2019 Dec 11;179(12):2447-2453. Epub 2019 Sep 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61354DOI Listing
December 2019

Genotype-phenotype correlation on 45 individuals with West syndrome.

Eur J Paediatr Neurol 2019 Nov 26. Epub 2019 Nov 26.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.11.010DOI Listing
November 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

Parental mosaicism in epilepsies due to alleged de novo variants.

Epilepsia 2019 Jun 11;60(6):e63-e66. Epub 2019 May 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

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http://dx.doi.org/10.1111/epi.15187DOI Listing
June 2019

From next-generation sequencing to targeted treatment of non-acquired epilepsies.

Expert Rev Mol Diagn 2019 Mar 4;19(3):217-228. Epub 2019 Feb 4.

a Department of Epilepsy Genetics and Precision Medicine , The Danish Epilepsy Centre , Dianalund , Denmark.

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http://dx.doi.org/10.1080/14737159.2019.1573144DOI Listing
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

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

Hum Mutat 2018 12 13;39(12):1942-1956. Epub 2018 Sep 13.

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

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http://dx.doi.org/10.1002/humu.23619DOI Listing
December 2018

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Neurology 2018 10 14;91(16):755-757. Epub 2018 Sep 14.

From the Department of Neurodegenerative Diseases (S.N.H., L.S.), Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE) (S.N.H., L.S.), Tübingen, Germany; Institute of Human Genetics (I.K., F.R., J.R.L.), University of Leipzig, Germany; Neurologic Clinic and Policlinic, Departments of Medicine, Biomedicine and Clinical Research (C.B., J.K.), University Hospital Basel, University of Basel, Switzerland; and Department of Neurology (P.K.), University of Magdeburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006357DOI Listing
October 2018

High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders.

Authors:
Johannes R Lemke

JAMA Pediatr 2017 09;171(9):833-835

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1001/jamapediatrics.2017.1970DOI Listing
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Commentary: GATOR Complex-Associated Epilepsies.

Authors:
Johannes R Lemke

Epilepsia 2017 07 14;58(7):1121-1122. Epub 2017 Jun 14.

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http://dx.doi.org/10.1111/epi.13789DOI Listing
July 2017

Vitamin B6-Responsive Epilepsy due to a Novel KCNQ2 Mutation.

Neuropediatrics 2017 Jun 18;48(3):199-204. Epub 2017 Apr 18.

Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1055/s-0037-1601857DOI Listing
June 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children.

J Pediatr Endocrinol Metab 2017 May;30(5):507-515

Pediatric Research Center, University Hospital for Children and Adolescents, Medical Faculty, University of Leipzig, Leipzig.

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http://dx.doi.org/10.1515/jpem-2016-0435DOI Listing
May 2017

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Mol Genet Metab Rep 2017 Mar 1;10:1-4. Epub 2016 Dec 1.

Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospitals, University of Leipzig, Liebigstraße 20 a, 04103 Leipzig, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269163007
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http://dx.doi.org/10.1016/j.ymgmr.2016.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137178PMC
March 2017

Reply.

Ann Neurol 2017 02;81(2):328-329

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1002/ana.24856DOI Listing
February 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 2017

Towards a Molecular Syndromology of the Epilepsies.

Mol Syndromol 2016 Sep 17;7(4):169-171. Epub 2016 Aug 17.

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http://dx.doi.org/10.1159/000448358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073502PMC
September 2016

Novel Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

Mol Syndromol 2016 Sep 7;7(4):189-196. Epub 2016 Jul 7.

Department of Women and Child Health, Hospital for Children and Adolescents, Heidelberg, Germany; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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https://www.karger.com/Article/FullText/447461
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http://dx.doi.org/10.1159/000447461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073621PMC
September 2016

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Mol Syndromol 2016 Sep 24;7(4):239-246. Epub 2016 Aug 24.

Institute of Human Genetics, University Hospital and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1159/000448445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073659PMC
September 2016

Reply.

Ann Neurol 2016 07 10;80(1):168-9. Epub 2016 May 10.

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

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http://dx.doi.org/10.1002/ana.24669DOI Listing
July 2016

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.

Neuropediatrics 2016 Jan 16;47(1):5-11. Epub 2015 Nov 16.

Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1055/s-0035-1566448DOI Listing
January 2016

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:

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

Monogenic human skin disorders.

Dermatology 2014 8;229(2):55-64. Epub 2014 Jul 8.

Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland.

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http://dx.doi.org/10.1159/000362200DOI Listing
July 2015

Galanin pathogenic mutations in temporal lobe epilepsy.

Hum Mol Genet 2015 Jun 17;24(11):3082-91. Epub 2015 Feb 17.

Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddv060DOI Listing
June 2015

Epileptic Encephalopathies in Childhood: The Role of Genetic Testing.

Semin Neurol 2015 Jun 10;35(3):310-22. Epub 2015 Jun 10.

Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1055/s-0035-1552623DOI Listing
June 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.

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http://doi.wiley.com/10.1002/ana.24127
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http://dx.doi.org/10.1002/ana.24127DOI Listing
May 2014

Novel CACNA1A mutation(s) associated with slow saccade velocities.

J Neurol 2013 Dec 18;260(12):3010-4. Epub 2013 Sep 18.

Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland,

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http://link.springer.com/content/pdf/10.1007/s00415-013-7099
Web Search
http://link.springer.com/10.1007/s00415-013-7099-4
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http://dx.doi.org/10.1007/s00415-013-7099-4DOI Listing
December 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

A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.

Clin Dysmorphol 2013 Oct;22(4):143-5

aDivision of Human Genetics bDivision of Neuropediatrics, University Children's Hospital, Inselspital, Bern, Switzerland cCeGaT GmbH, Tübingen, Germany.

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http://dx.doi.org/10.1097/MCD.0b013e3283645439DOI Listing
October 2013

Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms.

J Stroke Cerebrovasc Dis 2013 May 20;22(4):437-43. Epub 2013 Feb 20.

Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2013.01.016DOI Listing
May 2013

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

Epilepsia 2012 Dec 27;53(12):2128-34. Epub 2012 Sep 27.

Division of Pediatric Neurology, Department of Pediatrics, Inselspital, University of Berne, Berne, Switzerland.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03676.xDOI Listing
December 2012

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

Invest Ophthalmol Vis Sci 2010 Aug 24;51(8):4253-65. Epub 2010 Mar 24.

Department of Ophthalmology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1167/iovs.09-4655DOI Listing
August 2010

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

Seizure 2009 Nov 19;18(9):660-3. Epub 2009 Aug 19.

Swiss Epilepsy Center Zurich, Bleulerstrasse 60, CH-8008 Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.seizure.2009.07.008DOI Listing
November 2009