Decoding KCNE2-Related Disorders: Genetic Testing and Beyond
Faulty potassium channels caused by KCNE2 mutations underlie long QT syndrome, Jervell and Lange-Nielsen syndrome and benign familial neonatal seizures in newborns.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Cracking the Code: Understanding KCNJ10-Related Disorders
SeSAME, EAST and SCAR14 share seizures, ataxia, hearing loss and electrolyte imbalance; all follow recessive inheritance of KCNJ10, so carrier testing informs families.
KCNQ1-Related Disorders: Long QT and Heart Rhythm
Long QT, Jervell and Lange-Nielsen, short QT and familial atrial fibrillation all follow KCNQ1 mutations that disturb potassium flow in the heart's cells.
Language Retardation Diagnosis and Genetic Factors
Also called developmental language disorder, it affects vocabulary, grammar and social communication, assessed by a speech-language pathologist.
Unlocking the Mysteries of Lethal Encephalopathy: Genetic Testing and Diagnosis
Forms such as Leigh syndrome, Alpers-Huttenlocher syndrome and infantile neuroaxonal dystrophy sit under this label, each with its own gene mutations and test limits.
Unlocking the Mysteries of LIG4-Related Disorders: Genetic Testing and Beyond
Faulty repair of DNA double-strand breaks explains the immunodeficiency, microcephaly and radiation sensitivity here; sequence and deletion analysis find LIG4 mutations.
Understanding, Diagnosing, and Using Genetic Testing for Limb-Girdle Muscular Dystrophy, Dominant
Discover the role of genetic testing in diagnosing and managing Limb-Girdle Muscular Dystrophy, Dominant (LGMD-D). Learn about diagnostic, carrier, prenatal, and newborn testing.
Understanding and Diagnosing Limb-Girdle Muscular Dystrophy, Recessive
Both copies of the gene must carry mutations for this form to appear; targeted mutation, sequence and deletion/duplication analysis tell it from other muscle disorders.