Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.

摘要: 1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability. It occurs approximately in 1 out of 5000 to 10,000 live births the most common subtelomeric microdeletion observed human. Medical problems commonly caused by deletions include developmental delay, disability, seizures, vision problems, hearing loss, short stature, brain anomalies, heart defects, cardiomyopathy, renal distinctive facial features. Although considered clinically recognizable, there significant phenotypic variation among affected individuals. Genotype-phenotype correlation this complicated, because similar clinical evidence seen patients different sizes. We review 34 scientific articles from 1996 2016 that described 315 delection syndrome. The aim find between size 1p36-deleted segments neurological phenotypes analysis electro-clinical patterns associated chromosomal aberrations, major tool identification epilepsy susceptibility genes. Our finding suggest delay early are frequent findings can contribute poor outcome for reason should be searched presenting infantile spasms hypsarrhythmic EEG, particulary if they combined dismorphic features, severe hypotonia delay.