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Karl Martin Klein

Karl Martin Klein

D-Index & Metrics

Neuroscience

D-Index
42
Citations
7170
World Ranking
7635
National Ranking
451

Overview

Karl Martin Klein is affiliated with the University of Calgary in Canada and has contributed extensively to research in Biochemistry, Genetics, and Molecular Biology, as well as Medicine. Their scholarly work emphasizes Genetics, Molecular Biology, Psychiatry and Mental Health, Pediatrics, Perinatology and Child Health, and Physiology. The scientist's research topics primarily concern Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, and Epilepsy research and treatment, along with studies on Pharmacological Effects and Toxicity, Tuberous Sclerosis Complex, Genomic Variations and Chromosomal Abnormalities, and Polyomavirus and related diseases.

Their recent publications reflect a focus on neurological and genetic disorders associated with epilepsy and neurodevelopmental conditions. Notable papers include:

  • Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study, 2020, The Lancet Neurology
  • Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications, 2021, Brain
  • Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17,458 subjects, 2020, Brain
  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, 2021, The American Journal of Human Genetics
  • Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood, 2022, Neurology

Karl Martin Klein has collaborated frequently with several researchers, which underlines their interdisciplinary and collaborative approach common in genetics and neurology. Frequent co-authors include:

  • Felix Rosenow
  • Patrick May
  • Renzo Guerrini
  • Pasquale Striano
  • Ingo Helbig

They have published in various scientific venues, with multiple contributions to Epilepsia and bioRxiv (Cold Spring Harbor Laboratory), each featuring six publications. Other significant journals where they have published include Brain, The American Journal of Human Genetics, and Neurology.

  • Epilepsia
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Brain
  • The American Journal of Human Genetics
  • Neurology

The focus of Karl Martin Klein's research on epilepsy and genetic neurodevelopmental disorders contributes to the understanding of complex molecular and clinical phenotypes, offering insights into genotype-phenotype relationships and treatment outcomes within these domains.

Best Publications

  • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

  • Mutations in DEPDC5 cause familial focal epilepsy with variable foci

    Leanne M Dibbens;Boukje de Vries;Simona Donatello;Sarah E Heron

  • De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  • Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

    Herm J Lamberink;Willem M Otte;Ingmar Blümcke;Kees P J Braun

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy

    Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  • Intravenous levetiracetam in the treatment of benzodiazepine refractory status epilepticus

    S Knake;J Gruener;K Hattemer;K M Klein

  • Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies

    Katrine Johannesen;Carla Marini;Siona Pfeffer;Rikke S. Møller;Rikke S. Møller

  • Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

    Rahel T. Florian;Florian Kraft;Elsa Leitão;Sabine Kaya

  • Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Mark A. Corbett;Thessa Kroes;Liana Veneziano;Mark F. Bennett;Mark F. Bennett

  • Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

    Katrine M Johannesen;Yuanyuan Liu;Mahmoud Koko;Cathrine E Gjerulfsen

  • A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

    Ingo Helbig;Tania Lopez-Hernandez;Oded Shor;Oded Shor;Peter Galer

  • Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

    Dennis Lal;Ann-Kathrin Ruppert;Holger Trucks;Herbert Schulz

  • Postmarketing experience with brivaracetam in the treatment of epilepsies: A multicenter cohort study from Germany.

    Isabel Steinig;Felix von Podewils;Gabriel Möddel;Sebastian Bauer;Sebastian Bauer

  • Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

    Carolien G F de Kovel;Carolien G F de Kovel;Steffen Syrbe;Eva H Brilstra;Nienke E Verbeek

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

    Patrick May;Simon Girard;Merle Harrer;Dheeraj R Bobbili

  • Non-invasive EEG evaluation in epilepsy diagnosis.

    Felix Rosenow;Karl Martin Klein;Hajo M Hamer

  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

    Unknown

  • Precision medicine in genetic epilepsies: break of dawn?

    Philipp Sebastian Reif;Meng-Han Tsai;Ingo Helbig;Felix Rosenow

  • Use of brivaracetam in genetic generalized epilepsies and for acute, intravenous treatment of absence status epilepticus.

    Adam Strzelczyk;Adam Strzelczyk;Lara Kay;Sebastian Bauer;Ilka Immisch

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  • Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

    Katrine M Johannesen;Yuanyuan Liu;Cathrine E Gjerulfsen;Mahmoud Koko

Frequent Co-Authors

Felix Rosenow
Felix Rosenow Goethe University Frankfurt
Adam Strzelczyk
Adam Strzelczyk Goethe University Frankfurt
Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Susanne Knake
Susanne Knake Philipp University of Marburg
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Pasquale Striano
Pasquale Striano University of Genoa
Federico Zara
Federico Zara University of Genoa
Hajo M. Hamer
Hajo M. Hamer University of Erlangen-Nuremberg
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Yvonne G. Weber
Yvonne G. Weber University of Tübingen

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