[Neuropsychiatric phenotype of Angelman syndrome and clinical care: report of seven cases].
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life. We review the diagnosis and long-term clinical care of patients with Angelman syndrome.
Universidad Militar Nueva Granada, Bogotá, Colombia. je.coteorozco@gmail.com.
Juan E
JE
Cote-Orozco
Servicio de Neurología Pediátrica, Hospital Militar Central, Bogotá, Colombia.
Paola Del Rocío
PD
Mera-Solarte
Servicio de Neurología Pediátrica, Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia.
Eugenia
E
Espinosa-García
D000293:Adolescent; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics; D010641:Phenotype
Angelman syndrome; UBE3A; child; chromosome 15q11-13; molecular imprinting