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1 V280M, and R414H) to identify how they cause hyperekplexia.
2 neurological disorders, including autism and hyperekplexia.
3 , but potentially fatal, neuromotor disorder hyperekplexia.
4 with ISOD who developed infantile spasms and hyperekplexia.
5 ange on electroencephalogram consistent with hyperekplexia.
6 yT2) are well-established genes of effect in hyperekplexia.
7 ve and clinically well stratified linkage to hyperekplexia.
8 ers a paediatric and adult startle disorder, hyperekplexia.
9 on, often present in the cases of hereditary hyperekplexia.
10 ic glycine transporter 2 (GlyT2), also cause hyperekplexia.
11 pastic), but have not been detected in human hyperekplexia.
12  confirm that GLRB mutations can cause human hyperekplexia.
13 (K276E), associated with an atypical form of hyperekplexia.
14  have revealed the basic deficit in familial hyperekplexia.
15 more often had movement disorders, including hyperekplexia.
16 ereditary molybdenum cofactor deficiency and hyperekplexia (a failure of inhibitory neurotransmission
17     Because GlyR mutations in humans lead to hyperekplexia, a motor disorder characterized by startle
18 n mutations in human glycine receptors cause hyperekplexia, a rare inherited disease associated with
19  gain-of-function GLRA1 mutations also cause hyperekplexia, although the mechanism is unknown.
20  in a patient with clinical symptoms of both hyperekplexia and epilepsy.
21 signment of GLRB as the third major gene for hyperekplexia and impacts on the genetic stratification
22 idate gene and auto-antibody target in human hyperekplexia and stiff person syndrome, respectively.
23 cterized by rigidity, painful muscle spasms, hyperekplexia, and brainstem signs.
24                   The developmental delay in hyperekplexia, and speech acquisition in particular, may
25 s in some hereditary epilepsies, in familial hyperekplexia, and the slow-channel congenital myastheni
26 ristic 'stiffness, startles and stumbles' of hyperekplexia, apnoea attacks (50 of 89) and delayed dev
27 ver, the mechanistic links between GlyRs and hyperekplexia are not yet understood.
28 rter GlyT2 are a second major cause of human hyperekplexia, as well as congenital muscular dystonia t
29                                         Most hyperekplexia cases are caused by mutations in the alpha
30 e receptor (GlyR), cause the startle disease/hyperekplexia channelopathy in man.
31 re associated with the neurological disorder hyperekplexia characterized by a generalized startle rea
32 even individuals had a clinical diagnosis of hyperekplexia confirmed by genetic testing: 61 cases had
33 plete the chloride electrochemical gradient, hyperekplexia could potentially result from reduced glyc
34 llator mouse model of the neuromotor disease hyperekplexia despite a decrease in synapse size, indica
35  a potential therapeutic target for dominant hyperekplexia disease and other diseases with GlyR defic
36 hat are responsible for a hereditary startle-hyperekplexia disease.
37 er, many individuals diagnosed with sporadic hyperekplexia do not carry mutations in these genes.
38 n in many pathophysiological states, such as hyperekplexia, epilepsy, autism and chronic pain.
39 sition 46 in the GlyR alpha1 subunit induced hyperekplexia following a reduction in the potency of th
40             Here, we describe a patient with hyperekplexia from a consanguineous family.
41 he nonepileptic paroxysmal movement disorder hyperekplexia has not previously been reported with ISOD
42 ding GlyT2 are the main presynaptic cause of hyperekplexia in humans and produce congenital muscular
43 ding GlyT2 are the main presynaptic cause of hyperekplexia in humans.
44 GlyRs whose pathogenicity is likely to cause hyperekplexia in the affected individual.
45 n the neuropathological mechanism underlying hyperekplexia in the mutant carriers.
46 es on the pathogenic mechanisms of recessive hyperekplexia indicate disturbances in glycine receptor
47                                              Hyperekplexia is a human neurological disorder character
48                                              Hyperekplexia is a rare human neuromotor disorder caused
49                                              Hyperekplexia is a rare neurological disorder characteri
50                                   Congenital hyperekplexia is a rare, potentially treatable neuromoto
51                                              Hyperekplexia is a syndrome of readily provoked startle
52                                              Hyperekplexia is caused by defective inhibitory glyciner
53                                              Hyperekplexia is characterised by neonatal hypertonia an
54                              We confirm that hyperekplexia is predominantly a recessive condition but
55                                              Hyperekplexia is predominantly caused by mutations in th
56 is motif, as present in a human patient with hyperekplexia led to impaired syndapin I binding.
57 er extremities, mild cerebellar atrophy, and hyperekplexia-like symptoms.
58                                              Hyperekplexia (MIM: 149400) is a neurological disorder c
59 nstem are more vulnerable than heteromers to hyperekplexia mutation-induced impairment.
60              We recently showed that two new hyperekplexia mutations, Q226E and V280M, induced sponta
61  of which is observed in patients with GLRA1 hyperekplexia mutations.
62 lie several neuromuscular disorders, such as hyperekplexia, myoclonus, dystonia, and epilepsy.
63 tic evidence for 'major' or 'minor' forms of hyperekplexia on a population basis.
64 ients suffering from the neuromotor disorder hyperekplexia or in spontaneous mouse models resulted in
65 ement disorders were reported in 14/25, with hyperekplexia or non-epileptic erratic myoclonus being t
66                                              Hyperekplexia or startle disease is a rare clinical synd
67                                              Hyperekplexia or startle disease is a serious neurologic
68                                   Hereditary hyperekplexia or startle disease is characterized by an
69                                              Hyperekplexia or startle disease is characterized by an
70 herited defects in glycine receptors lead to hyperekplexia, or startle disease.
71 quencing of SLC6A5 in 93 new unrelated human hyperekplexia patients revealed 20 sequence variants in
72  GLRB through 117 GLRA1- and SLC6A5-negative hyperekplexia patients using a multiplex-polymerase chai
73 glycine receptor mutants identified in human hyperekplexia patients using expression in transfected c
74 ta-subunit of hGlyR (GLRB) in a cohort of 22 hyperekplexia patients, we provide evidence to confirm t
75 uld also lead to pain sensitization and to a hyperekplexia phenotype that correlates with mutation se
76  propose it is primarily responsible for the hyperekplexia phenotype.
77  in a compound heterozygote with a transient hyperekplexia phenotype.
78            Here we analyzed 68 new unrelated hyperekplexia probands for GLRA1 mutations and identifie
79 e and dominant GLRB variants in 12 unrelated hyperekplexia probands.
80 ly ascertained reports of ethnicity from our hyperekplexia research cohort.
81 it of GlyR (glrb) occur in a murine model of hyperekplexia (spastic), but have not been detected in h
82 ects in human glycine receptors give rise to hyperekplexia (startle disease).
83  receptors (GlyRs) have been linked to human hyperekplexia/startle disease and autism spectrum disord
84                     In addition to classical hyperekplexia symptoms, some individuals had abnormal re
85 in development of neural pathologies such as hyperekplexia, which can be triggered by GlyR gain-of-fu
86 ies the debilitating neurological condition, hyperekplexia, which is characterised by exaggerated sta
87 se were compared with all published cases of hyperekplexia with an identified genetic cause.