Presentation
Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. [dialnet.unirioja.es]
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Eur J Paediatr Neurol. 2011;15:230–3. [ncbi.nlm.nih.gov]
Entire Body System
- Disability
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011;13:777–84. [ncbi.nlm.nih.gov]
- Epilepsy
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2008;71:997–9. [ncbi.nlm.nih.gov]
Gastrointestinal
- Failure to Thrive
Hum Genet 55: 209–222 Article CAS PubMed Google Scholar Kousseff BG (1980) Ring chromosome 15 and failure to thrive. [link.springer.com]
Neurologic
- Ataxia
Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev Med Child Neurol. 1994;36:736–42. [ncbi.nlm.nih.gov]
Treatment
Conclusions Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. [dialnet.unirioja.es]
Risk of sudden unexpected death in epilepsy in patients given adjunctive antiepileptic treatment for refractory seizures: a meta-analysis of placebo-controlled randomised trials. Lancet Neurol. 2011;10:961–8. [ncbi.nlm.nih.gov]
Prevention
Prevention of sudden unexpected death in epilepsy: a realistic goal? Epilepsia. 2013;54 Suppl 2:23–8. [PubMed: 23646967] Samaco RC, Hogart A, LaSalle JM. [ncbi.nlm.nih.gov]