Genetic Testing and Counseling and Child Neurology

Roa Sadat; Lisa Emrick

doi:10.1016/j.ncl.2021.05.003

Genetic Testing and Counseling and Child Neurology

Neurol Clin. 2021 Aug;39(3):705-717. doi: 10.1016/j.ncl.2021.05.003.

Authors

Roa Sadat¹, Lisa Emrick²

Affiliations

¹ 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.
² 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.

PMID: 34215382
DOI: 10.1016/j.ncl.2021.05.003

Abstract

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.

Keywords: 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.

Publication types

Review

MeSH terms

Child
Genetic Counseling*
Genetic Testing*
Humans
Neurology*