[Hyperekplexia -- a treatable neuropediatric disease].
Copyright policy )[Hyperekplexia -- a treatable neuropediatric disease].
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.
Cerebral Cortex, Chromosome Aberrations, Genetic Markers, Male, Base Sequence, Genetic Carrier Screening, DNA Mutational Analysis, Molecular Sequence Data, Infant, Newborn, Infant, Electroencephalography, Clonazepam, Amino Acid Substitution, Child, Preschool, Muscle Hypertonia, Humans, Amino Acid Sequence, Child, Follow-Up Studies, Genes, Dominant
Cerebral Cortex, Chromosome Aberrations, Genetic Markers, Male, Base Sequence, Genetic Carrier Screening, DNA Mutational Analysis, Molecular Sequence Data, Infant, Newborn, Infant, Electroencephalography, Clonazepam, Amino Acid Substitution, Child, Preschool, Muscle Hypertonia, Humans, Amino Acid Sequence, Child, Follow-Up Studies, Genes, Dominant
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