Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Hereditary hyperekplexia"'
Autor:
Lu Han, Qiang Shan
Publikováno v:
ACS Chemical Neuroscience. 11:3409-3417
The glycine receptor (GlyR) is a ligand-activated chloride channel, whose mutations are the major cause of hereditary hyperekplexia. The hyperekplexia-causing R271Q mutation, which is located at the extracellular outer mouth of the channel pore, dram
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644acb256a304fa724ec756fb7af3f93
https://doi.org/10.1021/acschemneuro.0c00522
https://doi.org/10.1021/acschemneuro.0c00522
Autor:
Samir M. Mounir
Publikováno v:
Annals of Neonatology Journal. 2:1-4
In this issue, we represent a case which may posse special interest to many neonatologists. Apparently healthy female neonate was born by spontaneous vaginal delivery as a sixth offspring to a third-degree consanguineous Egyptian parent. No significa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dea25d97199620158ce92ce70d336a12
https://doi.org/10.21608/anj.2020.69360
https://doi.org/10.21608/anj.2020.69360
Autor:
Qiang Shan, Lu Han
Publikováno v:
ACS chemical neuroscience. 12(18)
The glycine receptor (GlyR) is a neurotransmitter-gated chloride channel that mediates fast inhibitory neurotransmission, predominantly in the spinal cord and brain stem. Mutations of the GlyR are the major cause of hereditary hyperekplexia. Site-spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4cf255fbe83816fddc85f81ac77eed
https://pubmed.ncbi.nlm.nih.gov/34460217
https://pubmed.ncbi.nlm.nih.gov/34460217
Publikováno v:
Neurology. 97:e2248-e2249
Hereditary hyperekplexia is a rare neurologic disorder characterized by an exaggerated startle response with profound muscle stiffness.1,2 Given the nature of the spells, this condition is often misdiagnosed as epilepsy. Mutations in glycine receptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d76fc1b4c2f92a3995346b8b768ebf0f
https://doi.org/10.1212/wnl.0000000000012538
https://doi.org/10.1212/wnl.0000000000012538
Publikováno v:
Stiff-Person Syndrome and Related Disorders ISBN: 9783030430580
Pediatric stiff-person spectrum disorders (SPSD) are even much less common than adult SPSD. Data on pediatric SPSD are very limited. The phenotypes described in pediatric SPSD are similar to adults SPSD, most commonly the classic stiff-person syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eeac0422066cf047581c551411d95d78
https://doi.org/10.1007/978-3-030-43059-7_10
https://doi.org/10.1007/978-3-030-43059-7_10
Autor:
Arushi Gahlot Saini, Sanjay Pandey
Publikováno v:
Journal of the Neurological Sciences. 416:117051
Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekplexia is attributed to a genetic, idiopathic, or symptomatic cause. Hereditary hyperekplexia is a treatable neurogenetic d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d3db55418165f67e59a8daf0b2cba18
https://doi.org/10.1016/j.jns.2020.117051
https://doi.org/10.1016/j.jns.2020.117051
Publikováno v:
Medicine. 99:e19968
Introduction Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit gene (GLRA1) mutations have been reported in 5 Chinese patients. We report a Chinese infant with hyperekplexia and a novel mutation at c.29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a5fd914b5435c281d6f35c0e13addcb
https://doi.org/10.1097/md.0000000000019968
https://doi.org/10.1097/md.0000000000019968
Autor:
de la Roche Jeanne, Leuwer Martin, Krampfl Klaus, Haeseler Gertrud, Dengler Reinhard, Buchholz Vanessa, Ahrens Jörg
Publikováno v:
BMC Neurology, Vol 12, Iss 1, p 104 (2012)
Abstract Background The mammalian neurological disorder hereditary hyperekplexia can be attributed to various mutations of strychnine sensitive glycine receptors. The clinical symptoms of “startle disease” predominantly occur in the newborn leadi
Externí odkaz:
https://doaj.org/article/7f4a577e76354f7a937fd69f8008c12a
Autor:
Hideyuki Moriyoshi, Naoki Nishida, Yukiko Hata, Suguru Nishida, Junichiro Suzuki, Ryosuke Inagaki, Yasuhiro Ito
Publikováno v:
Rinsho shinkeigaku = Clinical neurology. 58(7)
A 31-year old women presented with excessive startle reflex and frequent falls. Her startle reflex is induced by slight stimuli which are not problematic in most people. Soon after her startle reflex is evoked, generalized muscle stiffness occurs. Sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae562943b4bd441de4623910d9e6be8
https://pubmed.ncbi.nlm.nih.gov/29962440
https://pubmed.ncbi.nlm.nih.gov/29962440
Publikováno v:
Neurology. 92:e2068-e2069
A 48-year-old man and his 41-year-old sister complained of pathogenic startles since birth. They carried a homozygous deletion mutation in GLRA1 : c.754delC (p. L252X). They felt stiff in 4 limbs with expressionless face when they were alarmed by une
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f78c31fb6ed0c7075cdccc3036fedf
https://doi.org/10.1212/wnl.0000000000007375
https://doi.org/10.1212/wnl.0000000000007375