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hereditary hyperekplexia (Kok disease, startle disease, stiff baby syndrome)
Genetics:
1) associated with mutations in glycine receptor alpha-1 gene
2) associated with mutations in glycine receptor beta gene
3) hypereplexia with epilepsy associated with mutations in the ARHGEF9 gene
4) associated with defects in GPHN
5) associated with defects in SLC6A5
6) autosomal dominant or autosomal recessive
Clinical manifestations:
1) abnormal startle reflex
2) muscle hypertonia
3) myoclonus
4) +/- epilepsy
General
developmental disorder
genetic disease of the central nervous system
Database Correlations
OMIM correlations
MORBIDMAP 138491
References
OMIM 149400