Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.
Bakker
Mirte J
MJ
Peeters
Els A J
EA
Tijssen
Marina A J
MA
D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D002998:Clonazepam / Q000627:therapeutic use*; D004576:Electromyography / Q000379:methods; D050485:GABA Plasma Membrane Transport Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009122:Muscle Hypertonia / Q000188:drug therapy* / Q000235:genetics; D018482:Muscle, Skeletal / Q000187:drug effects / Q000503:physiopathology; D010597:Pharmacogenetics; D012021:Reflex, Abnormal / Q000187:drug effects* / Q000235:genetics
D000927:Anticonvulsants; D050485:GABA Plasma Membrane Transport Proteins; C493413:SLC6A1 protein, human; D002998:Clonazepam