Page last updated: 2024-09-27

Hyperekplexia

A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.

Synonyms(1)

Synonym
Hyperekplexia

Research Excerpts

Overview

ExcerptReference
"Hyperekplexia is attributed to a genetic, idiopathic, or symptomatic cause."( Pandey, S; Saini, AG, 2020)
"Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition."( Chopra, S; Choudhury, V; Gupta, NP; Verma, V, 2020)
"Hyperekplexia is a rare sensorimotor syndrome characterized by pathological startle reflex in response to unexpected trivial stimuli for which there is no specific treatment."( Aragón, C; de la Rocha-Muñoz, A; López-Corcuera, B; Melgarejo, E, 2021)

Research

Studies (14)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's6 (42.86)28.8240
2020's8 (57.14)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycine0low60
sarcosine0low10
clonazepam0low30
apnea0low20
desoxycorticosterone0low10
pregnenolone0low10
tetrahydrodeoxycorticosterone0low10
pregnenolone sulfate0low10
proline0low10
n-arachidonylglycine0low10
phenylephrine hydrochloride0low10
picrotoxin0low10

Protein Targets (227)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
thioredoxin reductase4004
ATAD5 protein, partial1001
TDP1 protein4004
Microtubule-associated protein tau3003
estrogen-related nuclear receptor alpha4004
arylsulfatase A2002
euchromatic histone-lysine N-methyltransferase 25005
Bloom syndrome protein isoform 13003
D(1A) dopamine receptor2002
lamin isoform A-delta103003
neuropeptide S receptor isoform A1001
aldehyde dehydrogenase 1 family, member A13003
EWS/FLI fusion protein1001
NPC intracellular cholesterol transporter 1 precursor1001
survival motor neuron protein isoform d2002
Solute carrier family 22 member 1 0101
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Sodium-dependent noradrenaline transporter0101
5-hydroxytryptamine receptor 40202
Bile salt export pump0202
Aldo-keto reductase family 1 member B10202
Tryptophan 5-hydroxylase 10101
Angiotensin-converting enzyme0202
Aldo-keto reductase family 1 member B10101
5-hydroxytryptamine receptor 1A0101
Acetylcholinesterase0101
Aromatase0101
Sodium-dependent noradrenaline transporter 0202
Sodium-dependent dopamine transporter0101
Alpha-1D adrenergic receptor0202
5-hydroxytryptamine receptor 2C0202
Sodium-dependent serotonin transporter0213
Sodium-dependent serotonin transporter0101
Histamine H1 receptor0202
5-hydroxytryptamine receptor 2B0202
5-hydroxytryptamine receptor 70101
Spike glycoprotein2002
Sodium-dependent dopamine transporter 0101
Potassium voltage-gated channel subfamily H member 20202
Sigma intracellular receptor 20101
Sodium-dependent serotonin transporter0101
Sodium-dependent dopamine transporter0101
Nuclear receptor subfamily 3 group C member 3 0202
Canalicular multispecific organic anion transporter 10101
Ataxin-21001
Sigma non-opioid intracellular receptor 10202
Sigma non-opioid intracellular receptor 10101
Transporter0202
ATP-dependent phosphofructokinase2002
Gamma-aminobutyric acid receptor subunit pi0202
Gamma-aminobutyric acid receptor subunit pi1203
Gamma-aminobutyric acid receptor subunit delta0202
Gamma-aminobutyric acid receptor subunit alpha-10102
Gamma-aminobutyric acid receptor subunit beta-10102
Neuronal acetylcholine receptor subunit alpha-41102
Gamma-aminobutyric acid receptor subunit alpha-20102
Gamma-aminobutyric acid receptor subunit alpha-30102
Neuronal acetylcholine receptor subunit beta-21102
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-11203
Gamma-aminobutyric acid receptor subunit beta-10202
Gamma-aminobutyric acid receptor subunit delta1203
Gamma-aminobutyric acid receptor subunit gamma-20202
Gamma-aminobutyric acid receptor subunit gamma-21203
Gamma-aminobutyric acid receptor subunit alpha-51203
Gamma-aminobutyric acid receptor subunit alpha-31203
Gamma-aminobutyric acid receptor subunit alpha-40102
Gamma-aminobutyric acid receptor subunit gamma-20102
Gamma-aminobutyric acid receptor subunit gamma-11203
Gamma-aminobutyric acid receptor subunit alpha-21203
Gamma-aminobutyric acid receptor subunit alpha-41203
Gamma-aminobutyric acid receptor subunit beta-30202
Gamma-aminobutyric acid receptor subunit gamma-31203
Gamma-aminobutyric acid receptor subunit alpha-61203
Translocator protein0101
Translocator protein0101
Cholecystokinin receptor type A0101
Gastrin/cholecystokinin type B receptor0101
Gamma-aminobutyric acid receptor subunit alpha-50202
Gamma-aminobutyric acid receptor subunit alpha-30202
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit beta-20202
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit alpha-11203
Gamma-aminobutyric acid receptor subunit beta-31203
Gamma-aminobutyric acid receptor subunit beta-21203
Gamma-aminobutyric acid receptor subunit epsilon0202
Gamma-aminobutyric acid receptor subunit alpha-60202
Gamma-aminobutyric acid receptor subunit gamma-10202
GABA theta subunit1203
Gamma-aminobutyric acid receptor subunit gamma-30202
Gamma-aminobutyric acid receptor subunit epsilon1203
Gamma-aminobutyric acid receptor subunit theta0202
phosphopantetheinyl transferase2002
RAR-related orphan receptor gamma3003
SMAD family member 21001
USP1 protein, partial2002
GALC protein2002
SMAD family member 31001
GLI family zinc finger 33003
AR protein5005
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor3003
cytochrome P450 family 3 subfamily A polypeptide 43003
glucocorticoid receptor [Homo sapiens]3003
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha2002
pregnane X nuclear receptor2002
estrogen nuclear receptor alpha3003
peroxisome proliferator-activated receptor delta3003
peroxisome proliferator activated receptor gamma4004
vitamin D (1,25- dihydroxyvitamin D3) receptor3003
IDH12002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
v-jun sarcoma virus 17 oncogene homolog (avian)2002
nuclear receptor subfamily 1, group I, member 21001
nuclear factor erythroid 2-related factor 2 isoform 21001
thyroid hormone receptor beta isoform 22002
mitogen-activated protein kinase 11001
nuclear factor erythroid 2-related factor 2 isoform 14004
urokinase-type plasminogen activator precursor2002
plasminogen precursor2002
urokinase plasminogen activator surface receptor precursor2002
nuclear receptor ROR-gamma isoform 11001
geminin3003
Solute carrier family 22 member 30101
Voltage-dependent calcium channel gamma-2 subunit1001
Interferon beta2002
Sex hormone-binding globulin0022
Corticosteroid-binding globulin0202
Glutamate receptor 21001
TAR DNA-binding protein 432002
Solute carrier family 22 member 20101
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Glutamate receptor ionotropic, NMDA 1 0314
Sodium- and chloride-dependent glycine transporter 10202
Glutamate receptor ionotropic, NMDA 2A 0213
Glutamate receptor ionotropic, NMDA 2B0213
Glutamate receptor ionotropic, NMDA 2C0213
Large neutral amino acids transporter small subunit 10101
Glutamate receptor ionotropic, NMDA 2D0213
Proton-coupled amino acid transporter 10303
Glutamate receptor ionotropic, NMDA 3B0213
Serine racemase0101
Olfactory receptor 51E20011
Glutamate receptor ionotropic, NMDA 3A0213
Sodium- and chloride-dependent glycine transporter 20202
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Ferritin light chain1001
Chain A, Cruzipain1001
endonuclease IV1001
acetylcholinesterase1001
15-lipoxygenase, partial1001
hypoxia-inducible factor 1 alpha subunit2002
GLS protein1001
estrogen receptor 2 (ER beta)2002
regulator of G-protein signaling 41001
nonstructural protein 11001
farnesoid X nuclear receptor1001
G1001
cytochrome P450 2D61001
Histone H2A.x1001
Caspase-71001
peripheral myelin protein 22 isoform 11001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
vitamin D3 receptor isoform VDRA1001
chromobox protein homolog 12002
caspase-31001
heat shock protein beta-11001
DNA polymerase beta1001
flap endonuclease 11001
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)2002
DNA polymerase kappa isoform 11001
cytochrome P450 3A4 isoform 11001
M-phase phosphoprotein 81001
histone acetyltransferase KAT2A isoform 11001
Fatty-acid amide hydrolase 10101
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
HLA class I histocompatibility antigen, B alpha chain 1001
Cannabinoid receptor 10101
Histamine H2 receptor1001
N-arachidonyl glycine receptor0112
Inositol hexakisphosphate kinase 11001
cytochrome P450 2C9, partial1001
phosphoglycerate kinase1001
glp-1 receptor, partial1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
thyroid stimulating hormone receptor1001
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
Vpr1001
peripheral myelin protein 221001
5-hydroxytryptamine receptor 2A0011
Cellular tumor antigen p532002
Chain A, Beta-lactamase2002
Glucose-6-phosphate 1-dehydrogenase0202
Guanine nucleotide-binding protein G1001
Lanosterol 14-alpha demethylase0101
Glutamate receptor ionotropic, NMDA 2D0112
Glutamate receptor ionotropic, NMDA 2A0011
Glutamate receptor ionotropic, NMDA 2B0011
Glutamate receptor ionotropic, NMDA 2C0112
Cholesterol 24-hydroxylase0101
lethal factor (plasmid)1001
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Neutral amino acid transporter A0101
Neutral amino acid transporter B(0)0101
Amino acid transporter0101
Sodium- and chloride-dependent GABA transporter 10101
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent betaine transporter0101
Gamma-aminobutyric acid receptor subunit alpha-10101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]