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.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Source: Frontiers in Neurology - Category: Neurology Source Type: research
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Source: Journal of Clinical Neuromuscular Disease - Category: Neurology Tags: Original Article Source Type: research
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Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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