SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Nuha Al ZaabiNoora Al MenhaliFathiya Al-MurshediPublished in: Molecular genetics & genomic medicine (2017)
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.
Keyphrases
- genome wide
- patients undergoing
- copy number
- magnetic resonance imaging
- contrast enhanced
- temporal lobe epilepsy
- dna methylation
- intellectual disability
- white matter
- resting state
- computed tomography
- magnetic resonance
- mouse model
- smoking cessation
- functional connectivity
- hepatitis c virus
- blood brain barrier
- body composition
- human immunodeficiency virus
- genome wide analysis