Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.
Identifieur interne : 001C44 ( PubMed/Curation ); précédent : 001C43; suivant : 001C45Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.
Auteurs : Mirte J. Bakker ; Els A J. Peeters ; Marina A J. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Anticonvulsants (therapeutic use), Child, Clonazepam (therapeutic use), Electromyography (methods), GABA Plasma Membrane Transport Proteins (genetics), Humans, Male, Muscle Hypertonia (drug therapy), Muscle Hypertonia (genetics), Muscle, Skeletal (drug effects), Muscle, Skeletal (physiopathology), Pharmacogenetics, Reflex, Abnormal (drug effects), Reflex, Abnormal (genetics).
- MESH :
- chemical , genetics : GABA Plasma Membrane Transport Proteins.
- chemical , therapeutic use : Anticonvulsants, Clonazepam.
- drug effects : Muscle, Skeletal, Reflex, Abnormal.
- drug therapy : Muscle Hypertonia.
- genetics : Muscle Hypertonia, Reflex, Abnormal.
- methods : Electromyography.
- physiopathology : Muscle, Skeletal.
- Child, Humans, Male, Pharmacogenetics.
DOI: 10.1002/mds.22493
PubMed: 19562758
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pubmed:19562758Le document en format XML
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