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Biology and Biochemistry

D-Index
48
Citations
9428
World Ranking
18337
National Ranking
198

Overview

Helle Hjalgrim is affiliated with the University of Copenhagen in Denmark and focuses primarily on research in the field of medicine. Their work spans several subfields including psychiatry and mental health, pediatrics, perinatology and child health, genetics, cellular and molecular neuroscience, and oncology.

The main topics of Hjalgrim's research encompass epilepsy research and treatment, pharmacological effects and toxicity studies, genetics and neurodevelopmental disorders, neuroscience and neuropharmacology research, drug transport and resistance mechanisms, genomics and rare diseases, and sympathectomy and hyperhidrosis treatments.

They have published articles in several scientific venues with a notable presence in:

  • Epilepsy Research
  • Neurology
  • Brain Communications
  • Acta Dermato Venereologica
  • Frontiers in Pediatrics

Recent papers authored or coauthored by Hjalgrim include:

  • Patterns and prognostic markers for treatment response in generalized epilepsies, 2020, Neurology
  • Using common genetic variants to find drugs for common epilepsies, 2021, Brain Communications
  • Risk factors of paradoxical reactions to anti-seizure medication in genetic generalized epilepsy, 2021, Epilepsy Research
  • Epidemiology of Hyperhidrosis in Danish Blood Donors, 2021, Acta Dermato Venereologica
  • The clinical spectrum of familial and sporadic idiopathic generalized epilepsy, 2020, Epilepsy Research

Hjalgrim frequently collaborates with the following researchers:

  • Joanna Gesche
  • Guido Rubboli
  • Christoph P. Beier
  • Nasir Mirza
  • Bobby P.C. Koeleman

Best Publications

  • Analysis of shared heritability in common disorders of the brain

    Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

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

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

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

    Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  • 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 GRIN2A cause idiopathic focal epilepsy with rolandic spikes

    Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

  • Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

    Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  • Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

    Sarah L. Nolin;W. Ted Brown;Anne Glicksman;George E. Houck

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

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

  • Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

    Elfride De Baere;Michael J. Dixon;Kent W. Small;Ethylin W. Jabs

  • GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

    Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann

  • Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

    Martin H. Berryer;Fadi F. Hamdan;Laura L. Klitten;Rikke S. Møller

  • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

    Richard Anney;A. Avbersek;D. Balding;L. Baum

  • De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy

    Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  • Detection of generalized tonic–clonic seizures by a wireless wrist accelerometer: A prospective, multicenter study

    Sándor Beniczky;Tilman Polster;Troels W. Kjaer;Helle Hjalgrim

  • Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

    Julian Schubert;Aleksandra Siekierska;Mélanie Langlois;Patrick May

  • Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

    Johannes R. Lemke;Kirsten Geider;Katherine L. Helbig;Henrike O. Heyne

  • Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

    Elena Gardella;Felicitas Becker;Rikke S. Møller;Julian Schubert

  • Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

    Koenraad Devriendt;Gert Matthijs;Roeland Van Dael;Marc Gewillig

  • 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

Frequent Co-Authors

Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Sarah Weckhuysen
Sarah Weckhuysen University of Antwerp
Bobby P.C. Koeleman
Bobby P.C. Koeleman Utrecht University
Ulrich Stephani
Ulrich Stephani Kiel University
Peter De Jonghe
Peter De Jonghe University of Antwerp
Thomas Sander
Thomas Sander University of Cologne
Yvonne G. Weber
Yvonne G. Weber University of Tübingen
Niels Tommerup
Niels Tommerup University of Copenhagen
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne

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