Smith-Magenis syndrome: neurological features
Evidence-based neurology checklist on smith-magenis syndrome: neurological features: Genetics This is caused by mutations in the retinoic acid induced 1 (RAI1) gene This is the result of a deletion in chromosome 17p Developmental features Dysmorphic features Sleep disorders Behavioural and…
Genetics
- This is caused by mutations in the retinoic acid induced 1 (RAI1) gene
- This is the result of a deletion in chromosome 17p
Developmental features
Dysmorphic features
Sleep disorders
Behavioural and psychiatric features
Magnetic resonance imaging (MRI) brain: features
Electroencephalogram (EEG)
References
- Gropman AL, Duncan WC, Smith AC. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 2006; 34:337-350.
- Elsea SH, Williams SR. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Rev Mol Med 2011; 13:e14.
- Gupta R, Gupta N, Nampoothiri S, et al. Smith-Magenis syndrome: face speaks. Indian J Pediatr 2016; 83:589-593.
- Leoni C, Cesarini L, Dittoni S, et al. Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome). Am J Med Genet A 2010; 152A:708-712.
- Einspieler C, Hirota H, Yuge M, Dejima S, Marschik PB. Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. Dev Neurorehabil 2012; 15:313-316.
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