Genetics in Epilepsy.

Epilepsy / genetics Humans Phenotype
Dravet syndrome Early infantile epilepsy Epilepsy phenotype Epilepsy syndromes GLUT-1 deficiency Nonketotic hyperglycinemia Precision medicine in epilepsy

Journal

Neurologic clinics
ISSN: 1557-9875
Titre abrégé: Neurol Clin
Pays: United States
ID NLM: 8219232

Informations de publication

Date de publication:
08 2021
Historique:
entrez: 3 7 2021
pubmed: 4 7 2021
medline: 6 10 2021
Statut: ppublish

Résumé

The presence of unprovoked, recurrent seizures, particularly when drug resistant and associated with cognitive and behavioral deficits, warrants investigation for an underlying genetic cause. This article provides an overview of the major classes of genes associated with epilepsy phenotypes divided into functional categories along with the recommended work-up and therapeutic considerations. Gene discovery in epilepsy supports counseling and anticipatory guidance but also opens the door for precision medicine guiding therapy with a focus on those with disease-modifying effects.

Identifiants

DOI: 10.1016/j.ncl.2021.05.005 PMID: 34215385
pubmed: 34215385
pii: S0733-8619(21)00048-7
doi: 10.1016/j.ncl.2021.05.005
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

743-777

Subventions

Organisme : NINDS NIH HHS
ID : T32 NS043124
Pays : United States

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Disclosure No disclosures.

Auteurs

Luis A Martinez (LA)

Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Drive, Houston, TX 77030, USA.

Yi-Chen Lai (YC)

Department of Pediatrics, Section of Pediatric Critical Care Medicine, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Drive, Houston, TX 77030, USA.

J Lloyd Holder (JL)

Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Drive, Houston, TX 77030, USA.

Anne E Anderson (AE)

Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Drive, Houston, TX 77030, USA. Electronic address: annea@bcm.edu.

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Classifications MeSH

questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Genetics in Epilepsy.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetics in Epilepsy.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genetics in Epilepsy.