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- Title
Genetics Corner: Risk of Epilepsy in an Asymptomatic Infant with Prenatally Diagnosed Tuberous Sclerosis.
- Authors
Clark, Robin Dawn; Ramaanthan, Subhadra
- Abstract
A case study is presented of a 10-month old male infant who had been prenatally diagnosed with tuberous sclerosis (TSC). Topics include how TSC is an autosomal dominant disorder caused by excessive activation of the mammalian target of rapamycin (mTOR) signaling pathway by heterozygous inactivating pathogenic variants in either TSC1 or TSC2; and how preventive management has an important role in the neonatal care plan of all affected newborns with TSC, even if asymptomatic.
- Subjects
GENETICS; TUBEROUS sclerosis; INFANTS; PATIENTS' families; PARTIAL epilepsy; EPILEPSY; PEDIATRIC neurology; TUBEROUS sclerosis diagnosis; EPILEPSY risk factors; PHYSICAL diagnosis; PRENATAL diagnosis; ELECTROENCEPHALOGRAPHY; CELLULAR signal transduction; CHILD psychopathology; GABA; GENETIC counseling; EARLY medical intervention; COMORBIDITY; CHILDREN
- Publication
Neonatology Today, 2020, Vol 15, Issue 12, p111
- ISSN
1932-7129
- Publication type
Case Study
- DOI
10.51362/neonatology.today/2020121512111113