Novel GLRB gene mutation in a Saudi baby with hyperekplexia.
Article
in English
| IMSEAR
| ID: sea-152671
ABSTRACT
Aim:
We aim to describe a case of hyperekplexia in a Saudi neonate due to Novel mutation in GLRB. Case Presentation One month old Saudi neonate with hypertonicity, repetitive episodes of jitteriness and exaggerated startle reflex.Discussion:
Hyperekplexia (OMIM149400, 138492 & 604159) is considered a rare, autosomal dominant neurological disorder that presents early in life with hypertonicity, exaggerated startle response and life threatening neonatal apnea. It has been caused by mutation in the alpha-1subunit (GLRA1) on chromosome 5q32, Beta subunit (GLRB) gene on chromosome 4q31 of the inhibitory glycine receptor and GLYT2 gene (SLC6A5) on chromosome 11p15 which encodes a presynaptic glycine transporter.Conclusion:
Raising awareness of the presence of this treatable disease may prevent unnecessary exposure to anti-epileptic medications, prevent life threatening apneas and improve long term outcome.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Language:
English
Year:
2014
Type:
Article
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