Genetic Testing and Counseling and Child Neurology.

Child Genetic Counseling Genetic Testing Humans Neurology
Channelopathies - epilepsy, movement disorders, neuromuscular Enzymes - metabolic disorders, cell function Epigenetic modifiers - downstream effect on genes and proteins Genetic counseling Structural proteins - muscle, synapses, neurodevelopment

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

Advances in genetic technology have decreased the cost and increased the accessibility of genetic testing, and introduced new therapeutic options for many genetic conditions. With new treatments available for previously untreatable neurogenetic conditions, identifying a genetic diagnosis has become of great importance. This article provides a review of basic genetic concepts, ethical and counseling considerations with genetic testing, and genetic testing strategies, and highlights a series of clinical care pearls.

Identifiants

DOI: 10.1016/j.ncl.2021.05.003 PMID: 34215382
pubmed: 34215382
pii: S0733-8619(21)00046-3
doi: 10.1016/j.ncl.2021.05.003
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

705-717

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Auteurs

Roa Sadat (R)

Pediatric Neurogenetics Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital | Baylor College of Medicine, 6701 Fannin St., Suite 1250.07, Houston, TX 77030, USA. Electronic address: Roa.Sadat@bcm.edu.

Lisa Emrick (L)

Pediatric Neurogenetics Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital | Baylor College of Medicine, Houston, TX, USA.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Genetic Testing and Counseling and Child Neurology.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de génétique › Conseil génétique › Genetic Testing and Counseling and Child Neurology.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Genetic Testing and Counseling and Child Neurology.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic Testing and Counseling and Child Neurology.
questionsmedicales.fr › Professions de santé › Médecine › Neurologie › Genetic Testing and Counseling and Child Neurology.