DEE14 and KCNT2: Potassium Channels and Diagnosis
Mutations in KCNT2 alter potassium channels in the brain, producing the intractable seizures and developmental delay seen in DEE14. Testing identifies the exact variant.
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
Decoding Developmental and Epileptic Encephalopathy, 15: The Role of Genetic Testing
Recurrent seizures, cognitive impairment and motor difficulty appear early in DEE15, which research links to isoform-specific start-loss mutations in the UGP2 gene.
Decoding Diamond-Blackfan Anemia 11: The Role of Genetic Testing
An inherited marrow failure syndrome with congenital abnormalities and cancer predisposition, DBA11 follows an RPS7 mutation that impairs protein translation.
Decoding Dilated Cardiomyopathy 1II: The Role of Genetic Testing
An enlarged, weakened heart muscle pumps blood poorly in DCM1II, causing fatigue and shortness of breath; finding variants early also lets relatives be screened.
Decoding D,L-2-Hydroxyglutaric Aciduria: The Role of Genetic Testing in Diagnosis and Management
Developmental delays, seizures, hypotonia and cerebral abnormalities mark this metabolic disorder, split into D-2-HGA and L-2-HGA subtypes with distinct causes.
Dystonia 23: What Diagnostic Exome Sequencing Shows
Part of the combined and complex dystonia group, this condition is studied through diagnostic exome sequencing, which can name the mutation behind the movements.
Ectodermal Dysplasia 11A (EDARADD): Signs and Testing
Missing teeth, sparse hair and an inability to sweat follow from changes in the EDARADD gene, and one altered copy is enough to cause ED 11A in a child.
Exploring Ectodermal Dysplasia 11B: Understanding the Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Both parents must pass on the altered gene in this recessive form, which affects sweating, hair growth, nails and tooth development in different ways per person.