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Page 1
Hyperekplexia: A Single-Center Experience.
Dolu MH, Öz Tunçer G, Akça Ü, Aydın S, Bahadir O, Sezer Ö, Aksoy A, Taşdemir HA. Dolu MH, et al. J Child Neurol. 2024 Jun;39(7-8):260-267. doi: 10.1177/08830738241263243. Epub 2024 Jul 25. J Child Neurol. 2024. PMID: 39051604
Delayed gross motor development was detected in 4 patients (25%), and speech delay was reported in 3 (18.75%). Mutations in GLRA1 (NM_000171.4) and SLC6A5 (NM_004211.5) were identified in 13 (81.25%) and 3 patients (18.75%), respectively. ...
Delayed gross motor development was detected in 4 patients (25%), and speech delay was reported in 3 (18.75%). Mutations in GLRA1 (NM …
Dimensional Traits of Schizotypy Associated With Glycine Receptor GLRA1 Polymorphism: An Exploratory Candidate-Gene Association Study.
Vora AK, Fisher AM, New AS, Hazlett EA, McNamara M, Yuan Q, Zhou Z, Hodgkinson C, Goldman D, Siever LJ, Roussos P, Perez-Rodriguez MM. Vora AK, et al. J Pers Disord. 2018 Jun;32(3):421-432. doi: 10.1521/pedi_2017_31_303. Epub 2017 Jul 31. J Pers Disord. 2018. PMID: 28758885 Free PMC article.
There were significant associations between the minor alleles of three SNPs within the glycine receptor alpha 1 subunit (GLRA1) and the disorganized schizotypy dimension, even after Bonferroni correction. ...
There were significant associations between the minor alleles of three SNPs within the glycine receptor alpha 1 …
Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene.
Tezen D, Şimşir G, Çokar Ö, Demirbilek V, Başak AN, Yapıcı Z. Tezen D, et al. Parkinsonism Relat Disord. 2022 Dec;105:128-131. doi: 10.1016/j.parkreldis.2022.11.011. Epub 2022 Nov 15. Parkinsonism Relat Disord. 2022. PMID: 36434917
RESULTS: WES analysis revealed the previously reported homozygous c.277C>T p.Arg93Trp variant in the GLRA1 gene (ENST00000455880.2) in Family 1. In all other three families, the previously reported homozygous deletion of exons 1-7 of the GLRA1 gene was identified …
RESULTS: WES analysis revealed the previously reported homozygous c.277C>T p.Arg93Trp variant in the GLRA1 gene (ENST00000455880.2 …
Hereditary Hyperekplexia in Saudi Arabia.
Aldhilan A, Alhakeem A, Al Hajjaj S, Abukhalid M, Aldhalaan H, Salah E, Saeed M, Tabassum S, El Khashab HY, Aljabri M, Ali ES, Alwadei A, Hundallah K, Alghamdi A, Hakami W, AlShafi S, Alkuraya FS, Alanazy N, Seidahmed MZ, Alfadhel M, Tabarki B. Aldhilan A, et al. Pediatr Neurol. 2022 Sep;134:78-82. doi: 10.1016/j.pediatrneurol.2022.06.015. Epub 2022 Jun 24. Pediatr Neurol. 2022. PMID: 35841715
Based on molecular studies, they were classified into different subtypes: SLC6A5 variant (12 patients, 54.5%), GLRB variant (seven patients, 31.8%), and GLRA1 variant (three patients, 13.7%). All patients were homozygous for the respective causal variant. ...
Based on molecular studies, they were classified into different subtypes: SLC6A5 variant (12 patients, 54.5%), GLRB variant (seven patients, …
C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report.
Zhang Y, Wu LL, Zheng XL, Lin CM. Zhang Y, et al. Medicine (Baltimore). 2020 Apr;99(17):e19968. doi: 10.1097/MD.0000000000019968. Medicine (Baltimore). 2020. PMID: 32332682 Free PMC article.
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. ...Her diagnosis was confirmed as hereditary hyperekplexia with G …
INTRODUCTION: Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit …
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.
Yang Z, Sun G, Yao F, Tao D, Zhu B. Yang Z, et al. BMC Med Genet. 2017 Oct 6;18(1):110. doi: 10.1186/s12881-017-0476-6. BMC Med Genet. 2017. PMID: 28985719 Free PMC article.
We also review and analyse all reported GLRA1 mutations. The proband had a compound heterozygous GLRA1 mutation that comprised 2 novel GLRA1 missense mutations, C.569C > T (p.T190 M) from the mother and C.1270G > A (p.D424N) from the father. ...CONCLUSI …
We also review and analyse all reported GLRA1 mutations. The proband had a compound heterozygous GLRA1 mutation that comprised …
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
Here we report a new family of patients with a typical HPX phenotype, linked to a novel GLRA1 mutation, inherited with a recessive pattern. We then perform a systematic review of the literature of GLRA1-related HPX, describing the main epidemiological features of 21 …
Here we report a new family of patients with a typical HPX phenotype, linked to a novel GLRA1 mutation, inherited with a recessive pa …
Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.
Drehmann P, Milanos S, Schaefer N, Kasaragod VB, Herterich S, Holzbach-Eberle U, Harvey RJ, Villmann C. Drehmann P, et al. eNeuro. 2023 Nov 20;10(11):ENEURO.0263-23.2023. doi: 10.1523/ENEURO.0263-23.2023. Print 2023 Nov. eNeuro. 2023. PMID: 37903619 Free PMC article.
However, a significant number of diagnosed patients does not carry a mutation in the common genes GLRA1, GLRB, and SLC6A5 Recently, studies on solute carrier 7 subfamily 10 (SLC7A10; Asc-1, alanine-serine-cysteine transporter) knock-out (KO) mice displaying a startle disea …
However, a significant number of diagnosed patients does not carry a mutation in the common genes GLRA1, GLRB, and SLC6A5 Recently, s …
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
Huang Z, Lian Y, Xu H, Zhang H. Huang Z, et al. Seizure. 2018 May;58:6-8. doi: 10.1016/j.seizure.2018.03.017. Epub 2018 Mar 20. Seizure. 2018. PMID: 29602144 Free article.
Her mother also appeared excessive startle reflex during early infancy. A novel mutation in GLRA1 was detected in the girl and her mother. Consequently, she was diagnosed with HPX, and clonazepam was added. ...This is the first report of weird laughing in a hyperekplexia p …
Her mother also appeared excessive startle reflex during early infancy. A novel mutation in GLRA1 was detected in the girl and her mo …
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.
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 P366L, located in the TM3-4 loop, showed normal surface expression but reduced chloride currents, and acceler …
Most mutations located in the large intracellular domain (TM3-4 loop) of the GlyRalpha1 impair surface expression levels of the receptors. T …
20 results