SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure

ConclusionA clinical pattern of neonatal‐onset intractable seizure, profound developmental delay, muscular hypotonia, hypsarrhythmia, and no focal abnormality of brain MRI should prompt initiation of molecular genetic analysis of SYNJ1. Establishment of the diagnosis permits genetic counseling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis. A clinical pattern of neonatal‐onset intractable seizure, profound developmental delay, muscular hypotonia, hypsarrhythmia, and no focal abnormality of brain MRI should prompt initiation of molecular genetic analysis of SYNJ1. Establishment of the diagnosis permits genetic counseling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fmgg3.341

Source: Molecular Genetics & Genomic Medicine - November 1, 2017 Category: Genetics & Stem Cells Authors: Nuha Al Zaabi, Noora Al Menhali, Fatma Al ‐Jasmi Tags: CLINICAL REPORT Source Type: research