Abstract
Hyperekplexia is a rare inherited neurologic disorder that is characterized by hypertonia and an exaggerated startle response to sudden external stimuli. Until now, 5 genes are known to be associated with hyperekplexia: GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. In this report, we performed a clinical and genetic analysis of 4 Korean children with hyperekplexia. Two patients had typical clinical manifestations of hyperekplexia that initially were misdiagnosed as epilepsy. Direct sequencing of the GLRB and GLRA1 genes revealed 2 novel mutations, GLRB c.298-1G>A and c.1028C>T (p.S343F), in patient 1 and 1 novel mutation, GLRA1 c.895C>T (p.R299X), in patient 2. The other 2 familial cases, patients 3 and 4, exhibited startle responses, which appeared at the age of 1 year, and had global developmental delay. Those patients showed negative results for the 5 genes.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Carrier Proteins / genetics*
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Child
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Child, Preschool
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DNA Mutational Analysis
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Electroencephalography
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Epilepsy / epidemiology
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Epilepsy / genetics*
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Female
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Genetic Diseases, X-Linked / epidemiology
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Genetic Diseases, X-Linked / genetics*
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Glycine Plasma Membrane Transport Proteins / genetics*
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Guanine Nucleotide Exchange Factors / genetics*
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Humans
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Magnetic Resonance Imaging
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Male
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Membrane Proteins / genetics*
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Receptors, Glycine / genetics*
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Reflex, Abnormal / genetics*
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Republic of Korea / epidemiology
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Retrospective Studies
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Rho Guanine Nucleotide Exchange Factors
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Severity of Illness Index
Substances
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ARHGEF9 protein, human
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Carrier Proteins
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GLRA1 protein, human
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GLRB protein, human
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Glycine Plasma Membrane Transport Proteins
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Guanine Nucleotide Exchange Factors
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Membrane Proteins
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Receptors, Glycine
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Rho Guanine Nucleotide Exchange Factors
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SLC6A5 protein, human
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gephyrin
Supplementary concepts
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Hyperekplexia and Epilepsy