| HYPEREKPLEXIA | |
| STARTLE DISEASE; KOK-DISEASE | |
|
149400
OMIM = Online Mendelian Inheritance of Men | |
|
3197 | |
| glycine receptor subunit alpha-1 | |
| rare autosomal dominant autosomal recessive mutation in the GLRA1 gene | |
| Laboratory findings | |
| Symptoms | EEG abnormalities [-] EMG abnormalities [-] exaggerated startle reflex feeding difficulties, poor feeding hernia hypertonia, spasticity metabolic alkalosis motor retardation muscle stiffness myoclonus onset, infancy onset, neonatal seizures sudden death |