Abstract
Hyperekplexia (OMIM 138491) is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. If untreated it can be associated with sudden infant death from apnea or aspiration pneumonia and serious injuries. Different mutations of the alpha1-subunit of inhbitory glyzine receptor (GLRA1) could be found. Clonazepame, a gammaaminobutyric acid (GABA) receptor agonist is the therapy of choice. An early diagnose will lead to appropriate treatment and genetic counseling.
MeSH terms
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Amino Acid Sequence / genetics
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Amino Acid Substitution / genetics
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Base Sequence
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Cerebral Cortex / physiopathology
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Child
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Child, Preschool
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Chromosome Aberrations*
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Clonazepam
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DNA Mutational Analysis
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Electroencephalography
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Follow-Up Studies
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Genes, Dominant / genetics*
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Genetic Carrier Screening
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Genetic Markers / genetics
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Humans
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Infant
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Infant, Newborn
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Male
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Molecular Sequence Data
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Muscle Hypertonia / diagnosis
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Muscle Hypertonia / drug therapy
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Muscle Hypertonia / genetics*
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Muscle Rigidity / diagnosis
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Muscle Rigidity / drug therapy
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Muscle Rigidity / genetics*
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Myoclonus / diagnosis
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Myoclonus / drug therapy
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Myoclonus / genetics*
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Point Mutation
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Polymorphism, Single-Stranded Conformational
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Reflex, Abnormal / drug effects
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Reflex, Abnormal / genetics*
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Reflex, Startle / drug effects
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Reflex, Startle / genetics*
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Stiff-Person Syndrome / diagnosis
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Stiff-Person Syndrome / drug therapy
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Stiff-Person Syndrome / genetics
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Sudden Infant Death / etiology
Substances
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Genetic Markers
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Clonazepam