Unlocking the Mysteries of Infantile Epilepsy: A Guide to Genetic Testing
Recurrent seizures in young children have been linked to PRRT2, KCNQ2, SCN1A, CDKL5 and other genes that whole-exome sequencing or targeted re-sequencing can detect.
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 Intellectual Deficiency: The Power of Genetic Testing
Single-gene changes such as SOX3 and MED12 have been reported in intellectual deficiency, and a genetic diagnosis can guide treatment, support and family planning.
Unlocking the Mystery: Understanding Intellectual Disability and Seizures through Genetic Testing
Variants reported in PHF21A, ATRX and KCNQ3 link intellectual disability with epilepsy, and matching tests to a child's clinical picture can point to the cause.
Understanding, Diagnosing, and Using Genetic Testing for Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
Three features define this disorder: cognitive limitation, recurrent episodes of poor coordination and joint contractures at birth. MRI, CT and DNA testing aid diagnosis.
Decoding the Mystery: Understanding Intellectual Disability with Language Impairment and Autistic Features
Case reports link this profile to a 3p14 microdeletion, a CLCN4 variant, Malan syndrome and GALNT2 loss of function, each identified through genetic testing.
Decoding the Enigma: Understanding Intellectual Disability with Severe Speech Impairment
Variants in ATP9A, DEAF1 and CHAMP1 have each been reported in people with severe intellectual disability, impaired speech, motor delay and behavioral difficulties.
Unlocking the Mystery: Understanding and Diagnosing Intellectual Disability, Stereotypic Movements, Epilepsy, and Cerebral Malformations
Repetitive movements such as hand flapping, recurrent seizures and structural brain differences occur together here. EEG, MRI and DNA testing support diagnosis.
Decoding the Enigma of Recurrent Isolated Invasive Pneumococcal Disease
Repeat Streptococcus pneumoniae infections can appear as pneumonia, meningitis or sepsis; sequencing penicillin-binding genes shows which antibiotics still work.