Fragile Females: Case Series of Epilepsy in Girls With


Journal

Pediatrics
ISSN: 1098-4275
Titre abrégé: Pediatrics
Pays: United States
ID NLM: 0376422

Informations de publication

Date de publication:
09 2019
Historique:
accepted: 07 06 2019
pubmed: 24 8 2019
medline: 17 1 2020
entrez: 24 8 2019
Statut: ppublish

Résumé

Girls with pathogenic variants in

Identifiants

pubmed: 31439621
pii: peds.2019-0599
doi: 10.1542/peds.2019-0599
pii:
doi:

Substances chimiques

FMR1 protein, human 0
Fragile X Mental Retardation Protein 139135-51-6

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2019 by the American Academy of Pediatrics.

Déclaration de conflit d'intérêts

POTENTIAL CONFLICT OF INTEREST: Dr Myers reports grants from Citizens United for Research in Epilepsy, Dravet Canada, and the Research Institute of the McGill University Health Centre; he has also received a travel grant from Zynerba Pharmaceuticals and is a trial site investigator for LivaNova. Dr Sadleir is a trial investigator for a study with Zynerba Pharmaceuticals; she has acted as a consultant for Nutricia, has received funding for travel from Union Chimique Belge and Seqirus, and is a consultant for the Epilepsy Study Consortium. She received research funding from the Health Research Council of New Zealand and Cure Kids (New Zealand). Dr Scheffer reports grants from the National Health and Medical Research Council and National Institutes of Health during the conduct of the study and personal fees from Union Chimique Belge, GlaxoSmithKline, Eisai, BioMarin Pharmaceutical, Nutricia, GW Pharmaceuticals, Athena Diagnostics, and Xeonon outside the submitted work as well as other fees from Zogenix. In addition, Dr Scheffer has a patent for diagnostic and therapeutic methods for epilepsy and mental retardation limited to females, with royalties paid to the University of Melbourne (Central Adelaide Local Health Network), and a patent for methods of treating and diagnosing epilepsy by detecting mutations in the SCN1A gene, with royalties paid to Bionomics Inc and licensed to various diagnostic companies. Dr Legault is a trial site investigator for Novartis; the other authors have indicated they have no potential conflicts of interest to disclose.

Auteurs

Kenneth A Myers (KA)

Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada; kenneth.myers@mcgill.ca.
Departments of Pediatrics and Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canada.

Femke N G van 't Hof (FNG)

Department of Medicine, Epilepsy Research Centre, The University of Melbourne and Austin Health, Heidelberg, Victoria, Australia.
Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, Netherlands.

Lynette G Sadleir (LG)

Department of Paediatrics and Child Health, University of Otago, Wellington, Wellington, New Zealand.

Geneviève Legault (G)

Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Departments of Pediatrics and Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canada.

Elisabeth Simard-Tremblay (E)

Departments of Pediatrics and Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canada.

David J Amor (DJ)

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Paediatrics, The Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia; and.

Ingrid E Scheffer (IE)

Department of Medicine, Epilepsy Research Centre, The University of Melbourne and Austin Health, Heidelberg, Victoria, Australia.
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Paediatrics, The Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia; and.
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.

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Classifications MeSH