Decoding the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Epileptic Encephalopathy
Frequent seizures with cognitive impairment often begin in infancy; EEG, MRI and gene testing for SCN1A, CDKL5 or STXBP1 help pin down the cause.
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
Epileptic Spasms in Infants: Signs and Genetic Causes
Clusters of sudden muscle contractions in the first year of life, the tests used to find their cause, and what gene findings mean for treatment choices.
Decoding Erythrocytosis: Understanding, Diagnosing, and Utilizing Genetic Testing
Too many red blood cells thicken the blood, raising clot risk; primary and secondary forms differ, and JAK2, EPOR and VHL testing can point to the cause.
Decoding Familial Hematuria: The Power of Genetic Testing
Blood in the urine can come from mutations in COL4A3, COL4A4 or COL4A5, the type IV collagen genes behind Alport syndrome and thin basement membrane nephropathy.
Decoding Familial Hypoalphalipoproteinemia: A Guide to Diagnosis and Genetic Testing
Cardiovascular risk rises when HDL cholesterol stays low, as in FHA, where ABCA1-dependent cholesterol efflux is impaired and lifestyle change and medication are used.
Unlocking the Mysteries of Cardiomyopathy: Genetic Testing and Family History
Pediatric gene studies and sarcomere mutations found in sporadic dilated cardiomyopathy frame why testing is offered in familial and idiopathic cases alike.
Understanding Fetal Cystic Hygroma: Diagnosis and Genetic Testing
Fluid-filled sacs in the fetal lymphatic system show up on prenatal ultrasound; targeted imaging, amniocentesis or CVS and PTPN11 analysis are explained.
Focal Clonic Seizures: EEG, MRI and PRRT2 Testing
Rhythmic jerking limited to one part of the body marks a focal clonic seizure; EEG, MRI and variants in PRRT2, AQP4 or KCNJ10 all feed into the diagnosis.