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Hyperekplexia

Hyperekplexia (/ˌhaɪ.pər.ɛkˈplɛk.si.ə/; "exaggerated surprise") is a neurological disorder characterized by a pronounced startle response to tactile or acoustic stimuli and an ensuing period of hypertonia. The hypertonia may be predominantly truncal, attenuated during sleep, or less prominent after one year of age.

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Causes
Mutation of either the GLRA1 gene, GLRB gene, SLC6A5 gene, X-linked (ARHGEF9) gene, or GPHN gene
Complications
Increased alcohol and drug use
Duration
Chronic
Frequency
1 in 40,000
Medication
Clonazepam, diazepam, or phenobarbital; carbamazepine; 5-hydroxytryptophan; phenytoin; valproate; piracetam
Other names
Exaggerated surprise, exaggerated startle response, startle disease

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Map overview Semantic statistics

Hyperekplexia

Nodes51
Edges50
Triples67
Avg. degree1.96
Density0.039216
Components1

How this topic connects Entity context

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Hyperekplexia

Top relations

related to SLC6A5 · 11
Hyperekplexia → Any, ARHGEF9, As, Defects, GlyT1, GlyT2, GPHN, In, Mutations, SLC6A5, The SLC6A5
related to history · 10
Hyperekplexia → Bruyn, Drs, Dutch, Genetic, GLRA1, In, Kirstein, Kok, Silfverskiold, The
related to GLRA1 · 9
Hyperekplexia → Although, GLRA1, Homomeric, Inhibitory, The, The GLRA1, Thus, Wild-type, Within
has treatment · 6
Hyperekplexia → During, GABA, The, There, This, Vigevano
related to ARHGEF9 · 6
Hyperekplexia → ARHGEF9, Deficiencies, GABA, Since, The, X-linked
related to Diagnosis · 5
Hyperekplexia → CT, MRIs, Otherwise, The, There
related to Signs and symptoms · 5
Hyperekplexia → Affected, Genetic, Initially, Other, The
related to GPHN · 4
Hyperekplexia → Because, GABA, Gephyrin, GPHN
Causes · 1
Hyperekplexia → Mutation of either the GLRA1 gene, GLRB gene, SLC6A5 gene, X-linked (ARHGEF9) gene, or GPHN gene
Complications · 1
Hyperekplexia → Increased alcohol and drug use

Important terminology Word statistics

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Important terminology

glycine gene genetic startle receptors response glra1 receptor arhgef9 hypertonia symptoms subunit gephyrin within alpha-1 glrb slc6a5 gphn mutations disease

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
HyperekplexiaCausesMutation of either the GLRA1 gene, GLRB gene, SLC6A5 gene, X-linked (ARHGEF9) gene, or GPHN gene1.00infobox
HyperekplexiaComplicationsIncreased alcohol and drug use1.00infobox
HyperekplexiaDurationChronic1.00infobox
HyperekplexiaFrequency1 in 40,0001.00infobox
HyperekplexiaMedicationClonazepam, diazepam, or phenobarbital; carbamazepine; 5-hydroxytryptophan; phenytoin; valproate; piracetam1.00infobox
HyperekplexiaOther namesExaggerated surprise, exaggerated startle response, startle disease1.00infobox
HyperekplexiaPronunciation/ˌhaɪ.pɚ.ɛkˈplɛk.si.ə/1.00infobox
HyperekplexiaSpecialtyNeurology1.00infobox
HyperekplexiaSymptomsIncreased startle response to sudden auditory, visual, or tactile stimulation1.00infobox
Hyperekplexiahas treatmentThe0.60section
Hyperekplexiahas treatmentGABA0.60section
Hyperekplexiahas treatmentThere0.60section

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