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Lynette G. Sadleir

Lynette G. Sadleir

D-Index & Metrics

Neuroscience

D-Index
43
Citations
8740
World Ranking
7344
National Ranking
24

Overview

Lynette G. Sadleir is affiliated with the University of Otago in New Zealand. Their research focuses primarily on topics related to epilepsy, genetics, and neurodevelopmental disorders. The main fields of study in their work include Biochemistry, Genetics and Molecular Biology, and Medicine.

The subfields of study that define Sadleir's research contributions are Genetics, Psychiatry and Mental Health, Molecular Biology, Pediatrics, Perinatology and Child Health, and Cell Biology. Their research topics involve detailed studies on:

  • Epilepsy research and treatment
  • Genetics and neurodevelopmental disorders
  • Genomics and rare diseases
  • Pharmacological effects and toxicity studies
  • Genomic variations and chromosomal abnormalities
  • Ion channel regulation and function
  • Cannabis and cannabinoid research

The scientist has contributed multiple papers in leading venues. Some of the recent publications include:

  • "Current practice in diagnostic genetic testing of the epilepsies," 2022, published in Epileptic Disorders
  • "Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children," 2022, published in Neurology
  • "New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics," 2020, published in Genetics in Medicine
  • "NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns," 2020, published in Genetics in Medicine
  • "A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy," 2020, published in Translational Psychiatry

Frequent publication venues for this researcher include:

  • Epilepsia
  • Neurology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Epilepsia Open

Collaborative work is evident in Sadleir's frequent co-authors, who include:

  • Ingrid E. Scheffer
  • Heather C. Mefford
  • Samuel F. Berkovic
  • Michael S. Hildebrand
  • Gaëtan Lesca

Best Publications

  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Gemma L Carvill;Sinéad B Heavin;Simone C Yendle;Jacinta M McMahon

  • The spectrum of SCN1A-related infantile epileptic encephalopathies

    Louise A Harkin;Jacinta M McMahon;Xenia Iona;Leanne Dibbens;Leanne Dibbens

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    Gemma L. Carvill;Brigid M. Regan;Simone C. Yendle;Brian J. O'Roak

  • PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

    Sarah E. Heron;Bronwyn E. Grinton;Sara Kivity;Zaid Afawi

  • GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

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

  • Rare copy number variants are an important cause of epileptic encephalopathies.

    Heather C Mefford;Simone C Yendle;Cynthia Hsu;Joseph Cook

  • De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

    Candace T. Myers;Jacinta M. McMahon;Amy L. Schneider;Slavé Petrovski;Slavé Petrovski

  • Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

    Richard D. Bagnall;Douglas E. Crompton;Slavé Petrovski;Lien Lam

  • GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  • Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

    R. H. Wallace;B. L. Hodgson;B. E. Grinton;R. M. Gardiner

  • Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

    Andrew S Allen;Susannah T Bellows;Samuel F Berkovic;Joshua Bridgers

  • Electroclinical features of absence seizures in childhood absence epilepsy.

    L. G. Sadleir;K. Farrell;S. Smith;M. B. Connolly

  • Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults

    F. E. Jansen;L. G. Sadleir;L. A. Harkin;L. Vadlamudi

  • Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.

    Finbar J K O'Callaghan;Finbar J K O'Callaghan;Stuart W Edwards;Stuart W Edwards;Fabienne Dietrich Alber;Mario Cortina Borja

  • CHD2 variants are a risk factor for photosensitivity in epilepsy

    Elizabeth C. Galizia;Candace T. Myers;Costin Leu;Carolien G F de Kovel

  • Parental Mosaicism in “De Novo” Epileptic Encephalopathies

    Candace T. Myers;Georgina Hollingsworth;Alison M. Muir;Amy L. Schneider

  • 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

  • Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

    Kenneth A Myers;Luis E Bello-Espinosa;Joseph D Symonds;Joseph D Symonds;Sameer M Zuberi;Sameer M Zuberi

  • Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

    Todor Arsov;Saul A Mullen;Saul A Mullen;John Anthony Damiano;Kate M Lawrence

  • The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

    Rosemary Burgess;Shuyu Wang;Shuyu Wang;Amy McTague;Katja E Boysen

  • 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

Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Samuel F. Berkovic
Samuel F. Berkovic University of Melbourne
Heather C. Mefford
Heather C. Mefford University of Washington
Melanie Bahlo
Melanie Bahlo Walter and Eliza Hall Institute of Medical Research
Jozef Gecz
Jozef Gecz University of Adelaide
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Gaetan Lesca
Gaetan Lesca Claude Bernard University Lyon 1
Renzo Guerrini
Renzo Guerrini University of Florence
Christel Depienne
Christel Depienne Essen University Hospital
Erin L. Heinzen
Erin L. Heinzen University of North Carolina at Chapel Hill

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