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Quoted phrase not found in phrase index: "Hyperekplexia 4"
Page 1
Myoclonus.
Brown P. Brown P. Curr Opin Neurol. 1996 Aug;9(4):314-6. doi: 10.1097/00019052-199608000-00013. Curr Opin Neurol. 1996. PMID: 8858191 Review.
Several new aetiologies have been described and genetic advances have revealed the basic deficit in familial hyperekplexia....
Several new aetiologies have been described and genetic advances have revealed the basic deficit in familial hyperekplexia....
Myoclonus and epilepsies.
Fejerman N. Fejerman N. Indian J Pediatr. 1997 Sep-Oct;64(5):583-602. doi: 10.1007/BF02726110. Indian J Pediatr. 1997. PMID: 10771893 Review.
This leads to recognize the following five groups of conditions: (1) Myoclonus without encephalopathy and without epilepsy; (2) Encephalopathies with non-epileptic myoclonus; (3) Progressive encephalopathies presenting myoclonus seizures of epileptic syndromes (Progressive myoclo …
This leads to recognize the following five groups of conditions: (1) Myoclonus without encephalopathy and without epilepsy; (2) Encephalopat …
Differential diagnosis of epileptic seizures in infancy including the neonatal period.
Cross JH. Cross JH. Semin Fetal Neonatal Med. 2013 Aug;18(4):192-5. doi: 10.1016/j.siny.2013.04.003. Epub 2013 Apr 30. Semin Fetal Neonatal Med. 2013. PMID: 23642846 Review.
Some are physiological in the normal infant, such as neonatal tremor, benign neonatal sleep myoclonus, and shuddering attacks, whereas others may herald alternative rare neurological diagnoses with differing prognoses such as hyperekplexia, paroxysmal extreme pain disorder …
Some are physiological in the normal infant, such as neonatal tremor, benign neonatal sleep myoclonus, and shuddering attacks, whereas other …
Myoclonus status revealing COVID 19 infection.
Ben Mohamed D, Zouari R, Ketata J, Nabli F, Blel S, Ben Sassi S. Ben Mohamed D, et al. Seizure. 2023 Jan;104:12-14. doi: 10.1016/j.seizure.2022.11.010. Epub 2022 Nov 22. Seizure. 2023. PMID: 36446232 Free PMC article.
The myoclonic jerks were sensitive to tactile and auditory stimuli, without enhanced startle response or hyperekplexia. His gait was unsteady due to severe myoclonus, without cerebellar ataxia (video 2) and he had mild dysarthria. ...It generally occurs between 6 days and …
The myoclonic jerks were sensitive to tactile and auditory stimuli, without enhanced startle response or hyperekplexia. His gait was …
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.
Masri A, Chung SK, Rees MI. Masri A, et al. Brain Dev. 2017 Apr;39(4):306-311. doi: 10.1016/j.braindev.2016.10.010. Epub 2016 Nov 11. Brain Dev. 2017. PMID: 27843043
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. ...Mutations in GLRA1 gene was present in 9/16 (56.3%); the most common mutation was in p.G254D (4/9; 44.5%). Mutations in the GLRB gene …
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. ...M …
A child with hyperekplexia and epileptic myoclonus.
Wadi L, Medlej Y, Obeid M. Wadi L, et al. Epileptic Disord. 2018 Aug 1;20(4):279-282. doi: 10.1684/epd.2018.0986. Epileptic Disord. 2018. PMID: 30078784
Hyperekplexia is a rare neurogenetic disorder characterized by startle. ...A toddler with daily paroxysms of head drops and falls presented with epileptic myoclonus on EEG, however, whole-exome sequencing revealed hyperekplexia-related GLRA1 mutation. The boy eventu …
Hyperekplexia is a rare neurogenetic disorder characterized by startle. ...A toddler with daily paroxysms of head drops and falls pre …
Anesthetic management of a parturient with hyperekplexia.
Chau A, Roitfarb M, Carabuena JM, Camann W. Chau A, et al. A A Case Rep. 2015 Apr 15;4(8):103-6. doi: 10.1213/XAA.0000000000000135. A A Case Rep. 2015. PMID: 25867194
Hyperekplexia is a hereditary disorder characterized by exaggerated startle reflex in response to unexpected acoustic, tactile, and other stimuli. Neonates with hyperekplexia may present with hypertonia, developmental delays, apnea, and sudden death. ...
Hyperekplexia is a hereditary disorder characterized by exaggerated startle reflex in response to unexpected acoustic, tactile, and o …
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S. Dafsari HS, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004465. doi: 10.1101/mcs.a004465. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604777 Free PMC article.
To date, there are four known disease-associated genes for primary hyperekplexia, all of which are involved in the functioning of glycinergic synapses. ...We present the first report of halting hyperekplexia episodes by maternal soothing in multiple instances. We hi …
To date, there are four known disease-associated genes for primary hyperekplexia, all of which are involved in the functioning of gly …
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
Mine J, Taketani T, Yoshida K, Yokochi F, Kobayashi J, Maruyama K, Nanishi E, Ono M, Yokoyama A, Arai H, Tamaura S, Suzuki Y, Otsubo S, Hayashi T, Kimura M, Kishi K, Yamaguchi S. Mine J, et al. Dev Med Child Neurol. 2015 Apr;57(4):372-7. doi: 10.1111/dmcn.12617. Epub 2014 Oct 30. Dev Med Child Neurol. 2015. PMID: 25356525 Free article.
AIM: The aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia. METHOD: Clinical courses, responses to antiepileptic drugs, outcomes, and genetic testing were investigated in 17 Japanese patients (nine males, eight f …
AIM: The aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia. METHOD: Clin …
Epilepsy in Ehlers-Danlos syndrome.
Jacome DE. Jacome DE. Epilepsia. 1999 Apr;40(4):467-73. doi: 10.1111/j.1528-1157.1999.tb00742.x. Epilepsia. 1999. PMID: 10219273 Free article.
The fifth patient had focal seizures, a venous parietal angioma, hyperekplexia, nocturnal head oscillations (jactatio capitis nocturna), monoclonal gammopathy-associated neuropathy, and Tourette syndrome. ...
The fifth patient had focal seizures, a venous parietal angioma, hyperekplexia, nocturnal head oscillations (jactatio capitis nocturn …
38 results