For the past 30 years, new gene discoveries and new insights into the molecular mechanisms
of genetic diseases have appeared at a dizzying pace. These discoveries spawned hope
for rapid diagnostic and therapeutic advances based on a deepening understanding of
the molecular biology of these conditions, but progress toward these practical aims
was slow aside from the improved diagnostic accuracy for some of the conditions.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Pediatric NeurologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Mutations in antiquitin in individuals with pyridoxine-dependent seizures.Nat Med. 2006; 12: 307-309
Jülich K, Sahin M. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. In press.
Berry-Kravis E. Mechanism-based treatments in neurodevelopmental disorders: Fragile X syndrome. Pediatr Neurol. In press.
- Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome.J Dev Behav Pediatr. 2008; 29: 293-302
- Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model.J Med Genet. 2009; 46: 94-102
- A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome.J Dev Behav Pediatr. 2013; 34: 147-155
Article info
Publication history
Published online: February 03, 2014
Identification
Copyright
© 2014 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X SyndromePediatric NeurologyVol. 50Issue 4
- PreviewFragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders. Recent major advances have been made in the understanding of the neurobiology and functions of fragile X mental retardation protein, the FMR1 gene product, which is absent or reduced in FXS, largely based on work in the fmr1 knockout mouse model. FXS has emerged as a disorder of synaptic plasticity associated with abnormalities of long-term depression and long-term potentiation and immature dendritic spine architecture, related to dysregulation of dendritic translation typically activated by group I mGluR and other receptors.
- Full-Text
- Preview
- Mechanism-Based Treatment in Tuberous Sclerosis ComplexPediatric NeurologyVol. 50Issue 4
- PreviewTuberous sclerosis complex (TSC) is a genetic multisystem disorder that affects the brain in almost every patient. It is caused by a mutation in the TSC1 or TSC2 genes, which regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The most frequent neurological symptoms are seizures, which occur in up to 90% of patients and often are intractable, followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep problems.
- Full-Text
- Preview
