John Stephenson: paediatric neurologist who found a major area of medical misdiagnosis

Up to 30% of children diagnosed with epilepsy when presenting with loss of consciousness, falls, or other paroxysmal episodes were reportedly misdiagnosed and prescribed unnecessary drugs with frequent side effects. Fifteen years later it emerged that people mistakenly diagnosed with “pertussis vacc...

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Bibliographic Details
Published in:BMJ (Online) 2024-07, Vol.386, p.q1485
Main Author: Illman, John
Format: Article
Language:English
Subjects:
Children & youth
Convulsions & seizures
Disease
Epilepsy
Fainting
Families & family life
Hospitals
Neurology
Obituaries
Pediatrics
Pertussis
Sodium channels (voltage-gated)
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Description
Summary:Up to 30% of children diagnosed with epilepsy when presenting with loss of consciousness, falls, or other paroxysmal episodes were reportedly misdiagnosed and prescribed unnecessary drugs with frequent side effects. Fifteen years later it emerged that people mistakenly diagnosed with “pertussis vaccine damage” had pathogenic variants in the SCN1A gene associated with severe myoclonic epilepsy in infancy. In 1973, after only 10 years in practice, he became Glasgow’s first consultant paediatric neurologist at the Royal Hospital for Sick Children.
ISSN:1756-1833
1756-1833
DOI:10.1136/bmj.q1485