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Quoted phrase not found in phrase index: "Hyperekplexia 3"
Page 1
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
Video-EEG at onset was unremarkable in 14/19 (74%) infants, and 6 (33%) had initially been misdiagnosed with hyperekplexia. Multifocal seizures were observed at a median age of 14 days (range: 1-29). ...Neuropathology examination, performed in 3 patients, rev …
Video-EEG at onset was unremarkable in 14/19 (74%) infants, and 6 (33%) had initially been misdiagnosed with hyperekplexia. Multifoca …
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Ferraroli E, Perulli M, Veredice C, Contaldo I, Quintiliani M, Ricci M, Venezia I, Citrigno L, Qualtieri A, Spadafora P, Cavalcanti F, Battaglia DI. Ferraroli E, et al. Pediatr Neurol. 2022 Jul;132:45-49. doi: 10.1016/j.pediatrneurol.2022.05.002. Epub 2022 May 17. Pediatr Neurol. 2022. PMID: 35636282 Review.
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excessive startle reflexes, and (3) generalized stiffness following the startle. ...Additional clinical and preclinical studies are …
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) …
Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies.
Simard C, Vogrig A, Joubert B, Muñiz-Castrillo S, Picard G, Rogemond V, Ducray F, Berzero G, Psimaras D, Antoine JC, Desestret V, Honnorat J. Simard C, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Mar 13;7(3):e699. doi: 10.1212/NXI.0000000000000699. Print 2020 May. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32170042 Free PMC article.
In this French cohort, the majority were women (78%). At onset, 4 main patterns were observed: cerebellar syndrome (39%), isolated tremor (24%), oculomotor disturbances (17%), and other symptoms (19%). ...At the time the disease reached the plateau phase (median 12 weeks, …
In this French cohort, the majority were women (78%). At onset, 4 main patterns were observed: cerebellar syndrome (39%), isolated tr …
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.
OBSERVATION: A 60-year-old man with unknown family history and no medical issues other than smoking one cigarette packet a day over the span of 25 years. ...However, the patient tested positive for COVID-19 through PCR for viral RNA from the nasopharyngeal swab. After the …
OBSERVATION: A 60-year-old man with unknown family history and no medical issues other than smoking one cigarette packet a day over t …
Late onset hyperekplexia.
Hamelin S, Rohr P, Kahane P, Minotti L, Vercueil L. Hamelin S, et al. Epileptic Disord. 2004 Sep;6(3):169-72. Epileptic Disord. 2004. PMID: 15504715 Free article.
We report on the case of an 86-year-old woman who rapidly became unable to stand and walk because of jerky movements, suggesting a clinical diagnosis of myoclonus. It was observed that both unexpected and expected stimuli (audiogenic, tactile, or visual) triggered the myoc …
We report on the case of an 86-year-old woman who rapidly became unable to stand and walk because of jerky movements, suggesting a clinical …
Ethnicity can predict GLRA1 genotypes in hyperekplexia.
Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI. Thomas RH, et al. J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26. J Neurol Neurosurg Psychiatry. 2015. PMID: 24970905
OBJECTIVES: Hyperekplexia is predominantly caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor (GLRA1). ...METHODS: We carefully ascertained reports of ethnicity from our hyperekplexia research cohort. These were compared with all published …
OBJECTIVES: Hyperekplexia is predominantly caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor (GLRA1). ... …
The effects of clonazepam and vigabatrin in hyperekplexia.
Tijssen MA, Schoemaker HC, Edelbroek PJ, Roos RA, Cohen AF, van Dijk JG. Tijssen MA, et al. J Neurol Sci. 1997 Jul;149(1):63-7. doi: 10.1016/s0022-510x(97)05378-1. J Neurol Sci. 1997. PMID: 9168167 Clinical Trial.
Effects of clonazepam (1 mg for 1 day) and vigabatrin (1000 mg per day for 5 days) were investigated in a double-blind placebo-controlled cross-over study in 4 patients with hyperekplexia. The pharmacodynamic parameters were startle reflexes, studied 3 times during …
Effects of clonazepam (1 mg for 1 day) and vigabatrin (1000 mg per day for 5 days) were investigated in a double-blind placebo-controlled cr …
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Pronicka E, Ropacka-Lesiak M, Trubicka J, Pajdowska M, Linke M, Ostergaard E, Saunders C, Horsch S, van Karnebeek C, Yaplito-Lee J, Distelmaier F, Õunap K, Rahman S, Castelle M, Kelleher J, Baris S, Iwanicka-Pronicka K, Steward CG, Ciara E, Wortmann SB; Additional individual contributors. Pronicka E, et al. J Inherit Metab Dis. 2017 Nov;40(6):853-860. doi: 10.1007/s10545-017-0057-z. Epub 2017 Jul 7. J Inherit Metab Dis. 2017. PMID: 28687938
We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset. ...The neona …
We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical …
Hyperekplexia and sudden neonatal death.
Nigro MA, Lim HC. Nigro MA, et al. Pediatr Neurol. 1992 May-Jun;8(3):221-5. doi: 10.1016/0887-8994(92)90073-8. Pediatr Neurol. 1992. PMID: 1622521
Fifteen patients with hyperekplexia were identified in 3 families; diagnostic clinical characteristics were defined which allowed for early recognition and treatment. ...The need for immediate monitoring of at-risk infants, observation for signs of hyperek …
Fifteen patients with hyperekplexia were identified in 3 families; diagnostic clinical characteristics were defined which allo …
A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition.
Langlhofer G, Schaefer N, Maric HM, Keramidas A, Zhang Y, Baumann P, Blum R, Breitinger U, Strømgaard K, Schlosser A, Kessels MM, Koch D, Qualmann B, Breitinger HG, Lynch JW, Villmann C. Langlhofer G, et al. J Neurosci. 2020 Jun 17;40(25):4954-4969. doi: 10.1523/JNEUROSCI.2490-19.2020. Epub 2020 Apr 30. J Neurosci. 2020. PMID: 32354853 Free PMC article.
Hereditary mutations to GlyRs can lead to the rare, but potentially fatal, neuromotor disorder hyperekplexia. Most mutations located in the large intracellular domain (TM3-4 loop) of the GlyRalpha1 impair surface expression levels of the receptors. The novel GLRA1 mutation …
Hereditary mutations to GlyRs can lead to the rare, but potentially fatal, neuromotor disorder hyperekplexia. Most mutations located …
25 results